MEN2B Case Study

MEN2B Case Study
Choice "A" is the best answer. This patient has signs and symptoms consistent with multiple
endocrine neoplasia 2B. These signs include mucosal neuromas, as seen in the images above. He
also has headaches, palpitations and sweating episodes consistent with a pheochromocytoma. The
etiology of MEN2B stems from mutations in RET, a transmembrane proto–oncogene. Although its
function is still unknown, the protein produced by RET is critical during embryonic development of
the enteric nervous system and kidneys. RET is a RTK that consists of 3 domains, including a
cysteine–rich extracellular receptor domain, a hydrophobic transmembrane domain, and an
intracellular tyrosine kinase catalytic domain. Point mutations associated with MEN 2A and the
FMTC–only subtype has been identified in exons 10 and 11. Evidence of genotype/phenotype
correlation exists. Almost all individuals with MEN 2B have an identical mutation in codon 918 of
exon 16. Inheritance is autosomal dominant, with variable penetrance and expressivity [1].
Choice "B" is not the best answer. An autosomal recessive disorder develops when two copies of an
abnormal gene are passed onto the offspring. Examples of autosomal recessive disorders include
cystic fibrosis, sickle cell anemia, and Tay–Sachs disease. ... Show more content on Helpwriting.net
...
X–linked dominant inheritance is a mode of genetic inheritance by which a dominant gene is carried
on the X chromosome. X–linked dominant traits do not necessarily affect males more than females
(unlike X–linked recessive traits). The exact pattern of inheritance varies, depending on whether the
father or the mother has the trait of interest. All daughters of an affected father will also be affected
but none of his sons will be affected (unless the mother is also affected). In addition, the mother of
an affected son is also affected (but not necessarily the other way round). Examples of X–linked
dominant conditions include Rett syndrome, Fragile X syndrome, and Alport
... Get more on HelpWriting.net ...

Examination Of Cell Division And Dna Replication
The experiments of the past week allowed examination of cell division and DNA replication, the
processes by which cells carry out important functions. It is important to have an understanding of
these processes in order to have an understanding of biology. These most small occurrences are the
basis for life in all cells. Without division and DNA replication, organism could not grow and carry
out complex tasks, such as metabolism. In addition, natural selection can only occur where genetic
variation does. This makes division of cells and the recombination of their DNA essential to the
continuance of human life.
Cells that are diploid have two sets of chromosomes, one coming from each parent. This kind of cell
is most familiar to us because this is the way humans are genetically formed. However, the process
of replicating and packaging those genes is more complex than most people realize. The process
begins in the nucleus. The nucleus is the epicenter of control for the cell. In every nucleus there is a
set of chromosomes with our genetic makeup attached to them. These chromosomes are essential to
the life of the cell. Therefore, when cell division, or mitosis, or occurs, each cell gets a copy of the
entire set of chromosomes, rather than just a part of them. Each phase of mitosis carries out a very
specific task.
Interphase is the beginning of this process. In this stage, you cannot yet discern chromosomes in the
nucleus. The nucleolus, however, will be visible at this time.

Genetic Disorders: Trisomy Down Syndrome
Down Syndrome is a genetic disorder that causes a range of physical disorders and developmental
delays. It can be identified by some of the physical attributes the disorder comes with. These include
a single deep crease across the palm of the hand, slightly flattened facial profile, and an upward
slant to the eyes. To confirm the diagnoses doctors run a karyotype, which is a chromosomal
analysis. They do this by extracting a blood sample and grouping chromosomes by size, number and
shape. Down Syndrome is not commonly genetically passed down as opposed to what some may
think, it happens by random. About 1% of the cases are heredity and 5% come from the father.
Although, the risk of having a child diagnosed with down syndrome increase dramatically past the
age of 35. "A 35–year–old woman has about a one in 350 chance of conceiving a child with Down
syndrome, and this chance increases gradually to 1 in 100 by age 40." (ndss) ... Show more content
on Helpwriting.net ...
Trisomy Down Syndrome happens when there are three 21 chromosomes as opposed to the normal
two. This is a result of either the sperm or egg failing to separate causing a replication in every cell
of the body. Another type called Robertsonian Translocation happens when part of chromosome 21
is translocated to another chromosome to the reproductive cells to the parent or early development
of the child. This type accounts for about 4% of all cases of down syndrome. Mosaic is a form of
down syndrome when the extra chromosome 21 is found only in some of the body's cells.
"Mosaicism is the least common form of Down syndrome and accounts for only about 1% of all
cases of Down syndrome."

Using P-Element Induced Male Recombination to Generate a...
Using P–element Induced Male Recombination to Generate a Deletion in the DMAP1 Gene on
Chromosome Two in Drosophila melanogaster
Abstract: The goal of this study was to induce a deletion in the DMAP1 gene on chromosome two in
Drosophila melanogaster through P–element mobilization. The DMAP1 gene may be an essential
gene, however not much is known about it. We attempted to uncover the function of DMAP1 by
creating a series of genetic crosses and selecting for brown–eyed non–stubble male flies that may
have the deletion. To test whether these flies had the deletion, we produced PCR products and ran
them on an agarose gel, which resulted as inconclusive. We created a balanced stock of flies
homozygous for the deletion to see if the ... Show more content on Helpwriting.net ...
For example, wings–clipped P–elements that lack the inverted repeats (not able to be mobilized
themselves), which are not internally deleted and can produce a transposase source, can be
introduced to the internally–deleted P–element to provide transposase and therefore allow
transposition to occur. The provided transposase recognizes and binds to inverted repeats on the
internally–deleted P–element, which introduces nicks in the DNA beside the inverted repeats. This
allows the element to excise and insert into a new location. If it excises neatly out of the DNA, a
deletion will not occur. However, if it excises to a homologue towards the right or the left, due to an
error in the excision process, a deletion will occur through this pre–meiotic recombination event.
This process of P–element mobilization is the basis of how we directed recombination in male flies,
and therefore the basis of generating deletions in the DMAP1 gene. We made several crosses that
allowed P–element mobilization to occur in male flies by crossing P–element strains (non–
autonomous) to a transposase source, producing heterozygous flies containing a P–element and a
transposase source, and therefore allowing us to induce and detect male recombination events in
progeny. The specific recombination event of interest is when the P–element is mobilized towards
the right onto a homologue, which may have induced a deletion in

Advantages And Disadvantages Of Polyploidy
Definition: Polyploidy is the heritable condition in which a normally diploid cell or organism
acquires one or more additional sets of chromosomes.
Polyploidy refers to a numerical change in a whole set of chromosomes. Organisms in which a
particular chromosome, or chromosome segment, is under– or overrepresented are said to be
aneuploid. Therefore, the distinction between aneuploidy and polyploidy is that aneuploidy refers to
a numerical change in part of the chromosome set, whereas polyploidy refers to a numerical change
in the whole set of chromosomes.
Animals
Examples in animals are more common in non–vertebrates[9] such as flatworms, leeches, and brine
shrimp. Within vertebrates, examples of stable polyploidy include the salmonids and ... Show more
content on Helpwriting.net ...
However, these epigenetic changes might instead increase diversity and plasticity by allowing for
rapid adaptation in polyploids. One example may be the widespread dispersal of the invasive
allopolyploid Spartina angelica. However, it is not clear whether the success of this species can be
attributed to fixed heterosis or to the increased variability that results from epigenetic remodeling.
Polyploidy is also believed to play a role in the rapid adaptation of some allopolyploid arctic flora,
probably because their genomes confer hybrid vigor and buffer against the effects of inbreeding.
However, fertility barriers between species often need to be overcome in order to form successful
allopolyploids, and these barriers may have an epigenetic

Fetus Development
Genetics is the study of heredity and the different inherited characteristics (Dictinonary.com). All
humans are made up of cells. Each cell contains chromosomes. Chromosomes are genetic material
that determine many things about a person. For example, their height, hair color, eye color, sex, and
personality traits. Deoxyribonucleic acid is in charge of the transmission of genetic materials. A
single, cell develops into the large organs that is a human newborn infant in 266 days (Infant and
Early Childhood Development). Prenatal development is the process of growth, differentiation,
development, and maturation between fertilization and birth (Dictionary of Medical Terms).
A human has 23 pairs of chromosomes. The developing fetus gets half ... Show more content on
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The human body develops from a single cell produced from the joining of the male and female sex
cells. This joining marks the beginning of the prenatal period. There are three stages. The first stage
is the pre–embryonic stage. The first two weeks of development, which is a period of cell division
and initial differentiation. The second stage is the embryonic stage. Which lasts from the third to the
eighth week of development. The third stage is the fetal period. Which is the maturation of tissues
and organs and rapid growth of the body (Prenatal

Genetic Analysis Of Alcoholism
Genetics of Alcoholism The Oxford Pocket Dictionary says that, "alcoholism is an addiction to the
consumption of alcohol or the mental illness and compulsive behavior resulting from alcohol
dependency". Individuals that deal with alcoholism often report that they feel they cannot function
properly without alcohol. People turn to alcohol for various reasons, the most common reasons are
relief of stress, coping of loss, relief of anxiety, and simply to feel good. Long term consumption of
alcohol can lead to many health complications. Research has shown that genetics can influence half
the risk for alcoholism.
Since 1989, the National Institute on Alcohol Abuse and Alcoholism has dedicated themselves to
identify the specific genes that play ... Show more content on Helpwriting.net ...
Endophenotypes are hereditary traits that usually has an association with a condition, but is not a
direct manifestation of the condition. Studies have concluded that a collection of endophenotypes of
impulsivity, disinhibition, and related characteristics with a polymorphism (genetic variation) of the
GABAA receptor, alpha 2 gene on chromosome 4. This gene variation is related to conduct disorder
and the antisocial personality disorder (both conditions that show impulsivity and disinhibition) , as
well as a susceptibility to the dependency of alcohol. A few other polymorphisms that are possibly
related with disinhibition or cognitive mechanisms include a variation of the cholinergic receptor,
muscarinic 2 on chromosome 7, and the alcohol dehydrogenase 4 gene on chromosome 4 which can
impact the dopamine reward systems through changes. Another polymorphism that is associated
with disinhibition and other phenotypes is in ACN9 homologue on chromosome 7, which is believed
to be apart of the process in gluconeogenesis and the ability of the body to use acetate which is a
large range of genes possibly a factor in risk of schizophrenia and manic depressive disease, and
these disorders may carry a high risk of alcohol and drug relency. Some individuals may experience
a greater perception of satisfaction from alcohol compared to other individuals, resulting in frequent
use of

Down Syndrome Research Paper
Down syndrome is where every cell in the body has a nucleus, genetic material is then stored in
genes. Some of those genes carry codes that are responsible for the inherited traits that are grouped
up along rod–like structures that are called chromosomes. Down syndrome is the part that occurs
when one individual has a partial or full copy of chromosome 21. The nucleus of each cells contain
23 different pairs of chromosomes, half of those which are inherited from each of the parent. Some
common traits of Down syndrome are low muscle tones, upward slant in the eyes, and single deep
crease across the center of the palm. Approximately 400,000 Americans have Down syndrome and
almost 6,000 babies with Down syndrome are born in the United States ... Show more content on
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First type of Down syndrome is called Trisomy 21. This Down syndrome is caused by errors in cell
divisions called "nondisjunction." Nondisjunction results in an embryo with three different copies of
chromosome 21 instead of usual two. A pair of 21st chromosomes are in either the sperm or the egg
fails to separate. While the embryo develops, extra chromosomes are replicated in every cells of the
body. The type of Down syndrome accounts for 95% of cases, known as trisomy 21. The second
type of Down syndrome is mosaicism. Mosaicism is a diagnosed where a mixture of two cells, some
containing the usual 46 chromosomes and some contain 47. Some of those cells with 47
chromosomes contain an extra chromosome 21. This is the least common form of Down syndrome
and accounts of for only 1% of all cases of Down syndrome. Researchers has indicated individuals
with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with
other types of Down syndrome. The last type of disease is translocation. In translocation, accounts
of 4% of cases of Down syndrome, total number of chromosomes in the cells remain 46; however,
an additional full or partial copy of chromosome 21 attaches of another chromosome, usually known
as chromosome 14. This presence of extra full or partial chromosomes causes characteristics of
Down

Gene Mutations And Its Impact On A Person 's Health
Literature Review
Part l
Introduction
In this chapter we will explore the topic of genes. Genes help to determine who we are and take part
in molding how our children will turn out to be. Many aspects will be investigated to gain insight
into the world of genetics. Genes and the way they are transmitted will be explored. Hereditary gene
mutations and its impact on a person's health are analyzed. Experts opinions on what they believe
will be the future of genetics in the healthcare industry and the ethical implications that can arise
will be addressed. This paper will explain the way people can use the knowledge of genes and gene
mutations to improve their health and the health of their families.
Genes and the way they are transmitted ... Show more content on Helpwriting.net ...
Due to the fact that our chromosomes come from each parent we are 50% related to our father and
50% related to our mother. Since our parents received half of their parents genes we are 25% related
to each grandparent. The further back a person's relatives go then the less DNA a person shares with
them. Genes are transmitted from one generation to the next and can be traced back to a person's
ancestors. Scientists were able to identify DNA in people living in the Netherlands today despite that
the Neanderthals died out 30,000 years ago (Adhikari, 2011). There are many different type of genes
that determine many traits such as a person's eye and hair color. Certain traits are hidden and can
skip generations until they finally reappear when a parent is a carrier to that gene. Each person
receives two copies of a gene, one from their father and one from their mother. The dominant gene
is the one that will show up since the recessive gene is weaker. Two dominant genes will result in
the child inheriting the dominant gene. A person that receives one dominant copy and one recessive
copy will inherit the dominant gene. The only way to inherit the recessive gene is if a person obtains
a recessive copy from each parent, thereby allowing hidden traits to reappear. Capital letters
symbolize a dominant gene while lower case letters symbolize a

Acute Promyelocytic Leukemia (APL)
he name of this genetic disorder is called acute promyelocytic leukemia (APL). This disorder causes
an overgrowth in the promyelocytes, A promyelocytes is the cells in your bone marrow. This leads
to a shortage of red and white blood cells and platelets in the body. In this disorder the Chromosome
13 is lost completely, There is no translocation between 7 and 15, 11,15 and 17, and 9 and 18. The
mutation that causes this is the PML gene on Chromosome 15 and the RARA gene on Chromosome
17. This is a dominant trait. Some symptoms people feel in the body are fatigue, a fever, loss of
appetite, and they bruise very easily because they don't have enough of the red blood cells to sustain
the bruise well enough. Some people also experience bleeding, ... Show more content on
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Treatment comes in three stages: Induction. This is when the doctors gives the patient all–trans
retinoic acid which is like a more powerful source of vitamin A. The vitamin A help to make the
patient stronger and kill off the PML. Consolidation: A drug called arsenic trioxide and
chemotherapy is given together. This combination is to get rid of any cells that were inactive in the
first phase. Maintenance: Another year or so of ATRA and chemotherapy is given for about a year to
prevent a relapse.This is more rare in children under 3 but is more common in children from 8 to 10
years of age. If your child is diagnosed with this disease is should be treated immediately and it
should be considered a medical emergency. The child will be need medical attention right away. If
your child's body is having trouble healing and if they get a cuts and it starts bleeding excessively
that is hard to stop you should get them checked for APL. The survival rate is at least 85 to 90
percent of children treated for APL are considered cured. The three phase plan is almost always
successful so a stem transplant will not always be needed. A stem transplant helps to grow healthy
blood–forming cells. The treatment for APL is different from the other leukemias. This is because
this cancer is more common in children do the children need to be admitted to the ICU (intensive
care unit) because of problems that can occur when

Prader-Willi And Angelman Syndrome: Epigenetic Analysis
Prader–Willi and Angelman Syndrome are two key examples of genomic imprinting of epigenetics.
Epigenetics is the changes of an organism, which is changed by the gene expression, instead of the
alteration of the genetic code (Butler, 2011). Genomic imprinting is subtopic among an epigenetic
phenomenon in which genes are expressed based upon the parent who gives the gene. Although
Prader–Willi and Angelman Syndrome are two completely different genetic disorders, they both
involve the same chromosome region but each disorder is inherited by a different parent. It has been
said that Prader–Willi and Angelman Syndrome are one of the first examples of error in genomic
imprinting in humans (Butler, 2011). In 1942 an embryologist Conrad Waddington ... Show more
The process of gametogenesis is where epigenetics is erased throughout each new generation
supposedly. However, in 2005, reports were made that epigenetics undergoes four subsequent
generations (Weinhold 2006). As for being able to reverse the genes given by the sperm and egg
after they are already formed, is not possible. The only way a disorder like Angelman or Prader–
Willi could be reversed is through the next generations. This explains how a mother can have two
children and only one of them could end up with one of these disorders. Although there isn't much to
be done to try and reverse the effects of epigenetics once and individual has suffered from it,
researches want more technology advances to go into the process of identifying genomically
imprinted genes. More development of counting the number of protein in the cell to recognize better
protein modification (Weinhold 2006). All of the recognized and know genes that are imprinted are
tallied in the Mammalian Genetics research group. There is still a lot of room to grow and learn
about epigenetics and all of the modified genes that occur in human bodies. Graduate school
students are advancing technology for this reason. More specifically, technology for additional

The Process Of Mitosis And The Function Of Chromosomes,...
By: Cole Kaicher, Michael Grabel, Benjamin Finkel
Period Four Garand
9/24/15–9/30/15
The process of mitosis is one performed millions of times a day by every living thing. Each of these
cells contains the blueprints of our bodies, which are scientifically known as chromosomes, genes,
and DNA. The purpose of this paper is to inform people about the process of mitosis, and to teach
people about the function of chromosomes, genes and DNA, and the relation between one another.
The process of mitosis is a five step process that starts from just a single cell. Every minute of
everyday, cells are dying, and in order for us to stay alive and functioning they must be replaced.
For example, if you get a cut on your hand, cells die. In order ... Show more content on
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Half of the chromosomes go to one side and half go to the other. When the chromosomes are on
either side telophase begins. Telophase is when the division is almost done. The cell membrane
closes and splits in two. From this you get two different cells. The process is complete... for now.
Interphase is when a cell is in it's resting state. The cell is just going about its normal business and
getting ready for another cell division that is soon to come.
The process of mitosis is a fascinating process which occurs when a cell needs to split into two child
cells. The process happens all the time as we grow, get injured, and need cells to repair our body, or
just to replace cells that have died.
Chromosomes, genes, and DNA are all connected. Each goes into each other like russian nesting
dolls. You start with the human body, inside the human body you have trillions of cells, which all
contain nuclei. Inside the nuclei are twenty three pairs of chromosomes, forty six total. Coiled inside
each of these chromosomes is DNA, and the DNA is made up of genes.
Every cell has different organelles, and these organelles eliminate waste and produce energy. The
cell nucleus is an organelle, and it is here that we find chromosomes. Imagine chromosomes like a
briefcase carrying the blueprints of life. Chromosomes are an outer casing for DNA, and they are the
ones who carry all of the information related to our bodies composition

A Short Note On 13, And Patau Syndrome
Trisomy 13, or Patau Syndrome, is caused by the presence of three chromosome copies on
chromosome 13. An extra copy of chromosome 13 causes the majority of cases. Some cases are
caused by a Robertsonian translocation between chromosome 13 and other autosomes such as
chromosomes 15, 21, and 22. According to Bishra & Clericuzio "Trisomy 13 is the third most
common autosomal trisomy, with an incidence of 1 per 10,000" (Bishara & Clericuzio, 2008, p. 30).
It is comprised mainly of defects of the eyes, nose, lips, forebrain, holoprosencephaly, polydactyly,
and narrow hyperconvex fingernails, and skin defects of the posterior scalp. The median age of
survival is seven days, with over 90% of affected patients dying within the first year of life (Jones &
Casanelles, 2014). Common causes of death include cardiac arrest, complications of congenital
heart disease, and pneumonia. Those that survive the neonatal period have an average length of stay
in the neonatal intensive care unit (NICU) of 10 days. According to studies, almost one quarter of
patients have at least one type of surgery in the neonatal period. More than half of fetuses with
trisomy 13 spontaneously abort. Most survivors have severe intellectual disability, seizures,
developmental delay, and failure to thrive. The incidence is slightly higher in females compared to
males.
The etiology of this disorder is trisomy of chromosome 13. Although most children do not survive
longer than one year, it is one of the

Campbell Biology Chapter
Exam
(THIS IS A SAMPLE) – CONTACT PDF.RENTALS@GMAIL.COM FOR ALL CHAPTERS.
Name___________________________________
MULTIPLE CHOICE. Choose the one alternative that best completes the statement or answers the
question. 1) The creation of genetically identical offspring by a single parent, without the
participation of sperm and egg, is called A) regeneration. B) sexual reproduction. C) spontaneous
generation. D) asexual reproduction. 2) Which of the following statements regarding sexual and
asexual reproduction is true? A) Only offspring from asexual reproduction inherit traits from two
parents. B) Sexual reproduction is more likely to increase genetic variation than is asexual
reproduction. C) Sexual reproduction typically includes ... Show more content on Helpwriting.net ...
C) anaphase.
15)
16)
D) prophase.
17)
18) During which phase of mitosis do the chromosomes line up on a plane equidistant from the two
spindle poles? A) anaphase B) metaphase C) telophase D) prophase 19) At the start of mitotic
anaphase, A) the chromatid DNA replicates. B) the centromeres of each chromosome come apart. C)
nuclear envelopes begin to form around the chromosomes. D) equivalent and complete collections
of chromosomes have reached the two poles.
18)
19)
2
20) During which phase of mitosis does the nuclear envelope re–form? A) anaphase B) prophase

C) telophase
D) metaphase
20)
21) Which of the following is a feature of plant cell division that distinguishes it from animal cell
division? A) formation of a cleavage furrow B) production of four (rather than two) new cells per
mitotic division C) lack of cytokinesis D) formation of a cell plate 22) Which of the following
features likely accounts for the difference between plant and animal cell cytokinesis? A) Animal
cells lack chloroplasts. B) Plant cells have cell walls. C) Animal cells lack the microfilaments
required for forming a cleavage furrow. D) Plant cells have two sets of chromosomes; animal cells
have one set of chromosomes. 23) Which of the following must occur for a plant or animal to grow
and develop normally? A) The organism must receive a supply of the appropriate hormones from its
parents. B) Sufficient light must be available to stimulate cell division. C)

Genetic Disorders: Down Syndrome
The term genetic disorders describe problems caused in the genes by abnormalities of the genome
(Genetic). These genetic disorders are typically rare and are passed on from parent to offspring by
recessive or dominant alleles, commonly known as gene types. One of these many rare disorders is
Down syndrome. There are three types of Down syndrome: trisomy 21, translocation Down
syndrome, and mosaic Down syndrome. Down syndrome is an incurable congenital disorder arising
from a chromosomal defect, which results in a multitude of physical and cognitive symptoms
(Missing). A congenital disorder is an abnormality which occurs before a child is born. For example,
a child cannot develop Down syndrome, it's either born with or without it. Down syndrome ... Show
more content on Helpwriting.net ...
Although it is incurable, new research, such as the DS research, is being made to figure out if there's
any possible way to watch over a child in its early stages to ensure it has the proper amount of
chromosomes being made. Insuring that there's no extra pairs of chromosome 21 being produced.
Along with that, discovering if there's any possible ways to control Down syndrome before the baby
is born, possibly looking further into genes even though it typically isn't the cause of Down
syndrome (Future). There's no cure today, but with the information known and the work researchers
are putting into further testing, one could possibly be approached in the near

Angelman Syndrome Research Paper
An English physician discovered Angelman syndrome in 1965, Dr. Harry Angelman, who described
this disorder by three patient, which showed similar characteristics such as: stiff, jerky gait, absent
speech, and excessive laughter and seizures. Angelman syndrome is a severe intellectual disability
resulting in ataxia (movement and balance difficulties), epilepsy, behavioral uniqueness, mental
retardation, and severe speech impairment. The occurrence of this genetic disorder is approximately
1/20,000 births. The disorder is categorized as a neurodevelopment disorder as it affects primarily
the nervous system. Patients have been described as having an angel–like demeanor as they are
frequently smiling and/or laughing; the patients have a very happy and excitable personality.
Exterior qualities recognized are the following: having light skin, reduced retinal pigment, low hair
bulb tyrosinase activity, and incomplete melanization of melaonsomes. Typically newborns will not
show abnormalities in the phenotype. Starting around the age of six months parents will start to see
developmental delays in their child. The clinical features as mentioned above do not ... Show more
First, the most common, which affects 75% of the population, is resulting from de novo maternal
deletions involving chromosome 15q.11.2–913. Second, approximately 25% of the population
results in mutations in gene encoding the ubiquitin protein ligase E3A gene. Third, there are 2–3%
whom results in AS through imprinting defects. Lastly, 2% of the population results from
uniparental disomy of 15q11.2–913, where the child receives two copies of a chromosome from
parent and no copies from the other parent. The image below (Figure 1) shows the different genetic
mechanisms that cause Angelman syndrome. We have a side–by–side visual of the chromosome and
what the defect(s) look like, and where it takes place on the maternal

People Born With Heterochromia
Why are some people born with heterochromia?
Eye colour is a polygenic trait, meaning that the phenotype of the trait is one which is influenced by
more than one gene. There are two genes which control the eye colours we are born with, which are
obtained from our parents. The first gene, which is found in chromosome 15, is called EYCL3 and is
responsible for brown or blue eye coloration. The second, which is found on chromosome 19, is
responsible for green or blue eye colouring and is called EYCL1. It is currently unknown if other
genes may determine the pigmentation of the iris in regard to patterns and placement, for example
the difference between an eye of a single colour block, such as brown, instead of rays of different
colours like hazel. (composed partially of green and brown)
An often occurrence of someone who is born with heterochromia, depending on if the case is
isolated and sporadic, is that the case is resulting from an alteration in either the EYCL3 or the
EYCL1 genes. This is called simple or complete heterochromia, and is inherited from one parent.
The parent ... Show more content on Helpwriting.net ...
1.4 Complete Heterochromia
Fig. 1.5 Sectoral Heterochromia Fig. 1.6 Central Heterochromia
The biological development of congenial heterochromia
As established previously, heterochromia is a trait which is passed through generations of people, if
one parent is a carrier of the disease.
Firstly, to discover the development of the condition, research must be done regarding the way we
obtain eye colours. The trait of eye colour has been defined as polygenic, meaning it is controlled by
more than one gene, and there are two known genes which code it. Both have been previously
mentioned. The first resides in chromosome 15 and is named EYCL3, and is responsible for BEY
(blue/brown eye colouring), the second EYCL1, is found on chromosome 19 which codes for GEY
(green or blue eye colouring). It is still unknown how genes interact to

Angelman Syndrome : The Happy Puppet Syndrome
According to the US National Library of Medicine (2017), Angelman Syndrome, also known as
Happy Puppet Syndrome is a "complex genetic disorder that primarily affects the nervous system."
Angelman Syndrome occurs when there is a change to the E3 Ubiquitin Protein Ligase Gene
(UBE3A) located on chromosome 15.
Angelman Syndrome was first discovered by Harry Angelman, a Physician in 1965, when he
witnessed three young children who represented similar symptoms. They all had bright, happy
personalities, along with stiff movements, lack of speech and seizures. While in Italy for the
holidays, Harry Angelman visited a museum that showed a picture of a puppet that had the same
physical appearances as his patients. He diagnosed his patients with Happy Puppet Syndrome,
which would later be known as Angelman Syndrome. In 1987, Ellen Magenis, who is also a
physician, identified children who seemed to have Prader–Willi Syndrome, a similar genetic
disorder to Angelman Syndrome. The difference between Angelman Syndrome and Prader–Willi
Syndrome, is that Angelman Syndrome can be caused by the deletion of the maternally derived
chromosome 15, while Prader–Willi Syndrome is the deletion of the paternally derived chromosome
15.
Symptoms of Angelman Syndrome include, but are not limited to sleeplessness, hyperactivity, short
attention spans, feeding difficulties and sensitivity to heat. It is also common for people with
Angelman Syndrome to have developmental delays, lack of speech,

Genetic testing is a class of medical testing that...
Genetic testing is a class of medical testing that recognize changes in chromosomes, gene or
proteins. This type of test look for abnormalities in DNA or RNA that is collected from a person's
blood, body fluids or tissues. Genetic testing scans the genes looking for large or small change that
occur to gene. These changes to the genes could have missing or addition parts that could change the
chemical base within the DNA strand. Abnormal genes could be the result of other mistakes like the
genes are too active, they are turned off, or those that are lost entirely. Having abnormal results on
genetic testing could mean that a person is prone in having a genetic disorder. There are different
types of genetic testing for adults and embryos ... Show more content on Helpwriting.net ...
o FISH analysis (fluorescent in situ hybridization) uses fluorescent DNA probes to recognize certain
areas on chromosomes. This test can be used to find small mistakes that was overlooked by the
karyotype test. A great example in the use of this test would be discovering missing fragments of
DNA on chromosome 22 which has features of velocardiofacial syndrome.
DNA sequencing is a genetic testing that was mentioned in the movie it is used to figure out the
right sequences of bases (nucleotides C, A, T, and G) in the gene of the person being tested. This test
is used in the detection of the breast cancer genes BRCA1 and BRCA2.
Pre–implantation testing is a used on embryos which is also called pre–implantation genetic
diagnosis (PGD). PGD detects genetic abnormalities in embryos that were created by a method
called in–vitro fertilization (IVF). This method consisted of removing egg cells from a woman
ovaries and then unite it with sperm cells outside the body. Pre–implantation is then tested by taking
a small number of cells from the embryos and testing them for certain genetic disorders. To achieve
a healthy pregnancy only the embryos without the genetic disorders are inserted back into the uterus.
Prenatal testing is a test used to recognize changes in a baby's genes before birth. If it is detected that
a baby will have an increased risk for a genetic or chromosomal disorder this test will be

Essay Birth Defects
Birth defects, or congenital malformations, are the faulty formation of structures or body parts
present at birth.
Sporadic, hereditary, or acquired defects may be immediately observed or may become manifest
later in life; they may be visible on the body surface or present internally. Birth defects may be life
threatening and require surgical correction, or they may interfere with function or appearance. It is
estimated that about 3% of all children are born with major defects; minor defects or variations are
estimated to occur in 10% to 15% of births.
Malformations may be single or multiple. Multiple malformations that occur in a regular
recognizable pattern are referred to as syndromes––for example, the FETAL ALCOHOL
SYNDROME
sometimes ... Show more content on Helpwriting.net ...
In cases of autosomal recessive inheritance, both parents are normal but each carries a silent, or
recessive, gene that, if matched in an offspring, causes the birth defect. Because both parents are so–
called carriers (heterozygotes) of the same abnormal gene, they run a 25% risk (1 in 4) of having a
child with the birth defect caused by that particular gene. Examples of birth defects inherited in this
autosomal recessive manner are TAY–SACHS
DISEASE and SICKLE–CELL ANEMIA. In cases of X–linked recessive inheritance the abnormal
gene is located on the X chromosome.
The normal mother has two X chromosomes, one of which carries the gene for the abnormal
condition; but if her son inherits her X chromosome with the abnormal gene, he will be affected
with the condition. HEMOPHILIA is inherited in this matter. Multifactorial Defects
Many common birth defects do not occur in a pattern that indicates simple Mendelian inheritance.
They seem to result from an interaction of genes and the environment, including the intrauterine
environment, and each factor includes a number of different hereditary and environmental
influences; hence, these defects are called multifactorial. Among them are congenital heart disease;
neural tube defects, including
SPINA BIFIDA, myelomeningocele, and anencephaly; and CLUBFOOT, CLEFT LIP
AND PALATE, and dislocated hips.
Chromosome Number An increase or decrease in the total chromosome material can cause birth
defects. For

Down Syndrome: A Congenital Disease
Down syndrome is a congenital disorder arising from a chromosome defect, the chromosome
causing the problems is Chromosome 21. This disorder affects about 1 in 700 births in the United
States. Currently there are about 400,000 Americans that have Down syndrome, with approximately
6,000 babies are born with Down syndrome each year. The disorder forms during fertilization or
soon after fertilization. Fertilization occurs when the sperm binds to zona pellucida, then the sperm
undergoes acrosome reaction which will lyses a hole in zona pellucida, and then the sperm and egg
membrane fuse. Once the membranes fuse, the sperms genetic material gets released and gets
combined with the egg's chromosomes, thus resulting in a 46 chromosome fertilized egg. ... Show
Some of the more common symptoms are low muscle tone, small stature, an upward slant to the
eyes, and flattened facial features. There are still many symptoms involved with Down syndrome,
such as: small head, short neck, protruding tongue, unusually shaped or small ears, broad–short
hands with a single crease in the palm, relatively short fingers, small hands and feet, excessive
flexibility, tiny white spots on the colored part (iris) of the eye called Brushfield spots. Also, infants
are born of average size, but are delayed in growth. They also achieve developmental milestones
way later in life than the average child (Mayo Clinic Staff). Besides symptoms many people who
have Down syndrome have many complications as well. There are complications that are not as well
known, such as: heart defects, increased risk of leukemia, more risk of infectious diseases due to
abnormalities in their immune system, dementia, sleep apnea due to the soft tissue and skeletal
changes that lead to the obstruction of their airways, obesity, gastrointestinal blockage, thyroid
problems, early menopause, seizures, ear infections, hearing loss, skin problems such as psoriasis,
skeletal problems, and poor vision (Mayo Clinic

Children With Down Syndrome
Also known as trisomy twenty–one is a genetic disorder caused by the presence of all or part of a
third copy of chromosome twenty–one. It is associated with physical growth delays, characteristic,
facial features, and intellectual disability. Down syndrome is one of the most common chromosomes
and abnormalities in humans. Those with Down syndrome nearly always have physical and
intellectual disabilities. As adults their mental abilities are typically similar to an eight or nine year
old. They typically have poor immune function and generally reach developmental milestones at a
later age. They have an increased risk of a number of other health problems, like congenital heart
disease, epilepsy, Leukemia, thyroid disease and mental disorder. People ... Show more content on
Helpwriting.net ...
The recovery process is life long and although there are some full functioning Down syndrome
patients there are others who require daily care and observation. Individuals with Down syndrome
can be identified by their features. Down syndrome has typical physical and mental characteristics,
but only seldom all of them or even most of them are found in one single person. If we study the
character of children with the syndrome, we will find they have a pleasant and convenient
temperament and a special character. They are friendly, sensitive and have a sharp and developed
emotional intelligence. These traits assist them in fitting in as a pat of society and the community
rather successfully. The discernible differences concerning the medical condition and the
developmental level between Down syndrome children are caused, among other things, by the
different medical treatments and the support of each child's environment. Support medical,
educational, environmental can bring many improvements in the children's function, allowing them
to extract their maximum potential and increases their chances to live a rich, independent
community

DNAAnd Synthesis Essay
There are 3 stages occur during interphase, which are G1 (gap one), S (synthesis) and G2 (gap two).
In G1 stage (also known as Growth phase), the cell grows, made protein, enzymes, nutrients and
organelles, which are needed for the DNA replication. In S stage, DNA replication happened
following the process of semi–conservative replication. In this process, the DNA helicase unwinds
the double helix structure (at replication fork). DNA polymerase is the enzyme that makes new
strands of DNA. It adds nucleotides onto the new strand towards the 3' end of the new strand.
Leading strands (3' to 5' direction) and Lagging strands (5' to 3' direction) are replicated differently.
DNA wraps around a special protein group call Histone. The chromosomes will have an X shape
with a pair of chromatids attach to one centromere in each chromosome. The cell will continue to
grow in G2 stage and will look for mistakes in the DNA and make sure that cells contain enough
protein that needed before going to mitosis.
11.
Cytokinesis
Plant cells Animal cells
Because plant cells have cell wall, they to divide by formation of membrane. The cell plate is
formed by vesicle in the middle of the cell. The cell plate will continue to grow and become a new
cell wall. Cells form a cleavage furrow in the middle of the cells allow it to divide. Furrowing
continues to constrict two sides of the membrane until they touch. Then, the membrane fuse and the
two new daughter cells are separated.
A mid body is

Mitosis And Onion Root Tip Cells And Record The Different...
Aim:
To observe mitosis in onion root tip cells and record the different phases of mitosis.
Hypothesis:
It is expected that the most common phase of mitosis seen will be interphase as the cell spends
around ninety percent of its time in this phase. This is because interphase is the period between cell
division in which the cells grows, DNA replicates and centrioles divide. It is such a long phase that
it is even split into three sub–phases; G1 phase in which a cell grows, S phase or synthesis, in which
a cell copies its chromosome and G2 phase in which the cell grows further and prepares for division.
Background Information:
Mitosis is one of two main methods of cell replication, the other being meiosis. It is "the simple
duplication of a cell and all of its parts" resulting from the splitting of a cell. The 'parent' or original
cell splits, duplicating its DNA (packaged in chromosomes) producing two 'daughter' or new cells
with the same genetic code. There are four stages of mitosis; Prophase, Metaphase, Anaphase and
Telophase. Interphase is not an official phase of mitosis as the cell is at 'rest' and not being divided
during this phase. It is often called one of the phases of mitosis as it is one of the stages in the life
cycle of a cell; however it is not a phase of mitosis due to the fact that no division takes place.
Interphase is often called the resting stage of mitosis. It is a stage in the life cycle of a cell where,
putting it simply, DNA is replicated and each

Angelman Syndrome
There are many diseases and syndromes that occur in the developmental stage of human
development. One of the many syndromes is Angelman syndrome. When this syndrome was first
discovered by Harry Angelman, it was known as "happy puppet syndrome". This syndrome is not
typically diagnosed at birth, but can also be diagnosed from the ages of one to six. This syndrome is
a neuro–genetic disorder that occurs in one in 15,000 people. Because of its rareness, this syndrome
is often misdiagnosed as autism or cerebral palsy. Make thesis– Angelman syndrome is caused by a
defect in the UBE3A gene, has various symptoms, that can be misdiagnosed, and patients will live
with lifelong treatment. The are various causes of Angelman syndrome, but the main cause ... Show
Angelman syndrome can be diagnosed within the first year of the life if the abnormalities are
noticed and investigated, but the disorder is more often diagnosed between 1 and 4 years of age as
the child's abnormalities become more clinically apparent (Bevinetto). In order to confirm the
diagnosis, a blood test must be done to look at the child's genetics (Angelman). Then, a combination
of genetic test can reveal the chromosome defects. There are three different defect tests may reveal:
parental DNA pattern, missing chromosome, or gene mutation. Parental DNA pattern test screens for
three of the four genetic defaults that cause this syndrome. To find out if the chromosome is missing
either a fluorescence in situ hybridization (FISH) test or a comparative genomic hybridization test
(CGH) can show if portions of chromosomes are missing. It is rare if Angelman syndrome occurs
with only a gene mutation. This happens when the UBE3A gene is present and active, but mutated.
A UBE3A gene sequencing test is used to look for maternal mutation (Mayo). After the diagnosis is
complete, treatments are discussed with the patient and their

Chromosome 15 Deletion
Chromosomes are identified to be found within the nucleus as long thin strands of DNA compiled
together, and arranged from largest to smallest based off their sizes [2]. In addition to this, a typical
chromosome usually contains a short and long arm. However, in a Chromosome 15 deletion, the
focus is within the long arm of the strand where the genetic material becomes lost. A variety of
detrimental effects can arise depending on which portion of the long arm is deleted as well. One
type of deletion called the proximal deletion that arises when the proximal portion which is directly
connected to the centromere, loses genetic material.
Usually when deletions include the centromere, the chromosome becomes handicapped and can no
longer segregate ... Show more content on Helpwriting.net ...
As a result, the missing chromosome can cause over 50 abnormalities that include: Anderman
syndrome, Angelman syndrome, ataxia neuropathy spectrum, Bloom syndrome, breast cancer,
Marfan syndrome, Prada–Willis syndrome, Tay–Sachs disease, and a lot more, depending on which
gene is affected. Generally, the most common observable behaviors are: intellectual disability,
seizures, psychiatric disorders, distinctive facial features and moodiness. Of particular interest is
Angelman syndrome which is also a sex–linked disorder. But regardless of the source of inheritance,
this disorder can be observed as any of the above listed behaviors or medical

Differences In Twins Compare And Contrast
Subash Khanal
ENGLISH 1113 @ TR@ 9:30
Mrs. Smith
8th Dec, 2016
Difference in twins and clones
From the very beginning of evolution, human beings have been developing themselves rapidly in
physical and mental aspects. With every successful evolutionary era, human beings are found to be
somewhat alike to their ancestor. Birth of twins is always a matter of great curiosity in world. Many
are amazed with this fact of twining. The fact that contrasts offspring's being alike to their ancestor
is a genetic carrier called DNA. DNA is a double helical structure that is composed of genetic
material called chromosomes. Chromosomes found in human body cells are equal in number in each
cell and are formed after the cell division and condensation of DNA (charlotte 3). With growing
technology and scientific progress artificial twining called cloning is also made possible. But,
Identical twins made from biological parents are incomparable to the clones made from a genetic
host.
Genetic material called Chromosomes carry genetic material from springs to spring with slight
variation. During birth unusual division of chromosome can give birth to twins. Twins can be of two
types identical twins and fraternal twins. Identical twins look alike but fraternal twins do not.
Twining is a biological process. There is another artificial process of making twins that is cloning,
which results same as twining. Usually by definition, clones are living organism that has placed
themselves in a different

Genetic Disorders: Angelman Syndrome
A genetic disorder is a mutation in an organisms DNA. It is caused by a change in the sequencing of
the nucleotides that make up a specific gene. The genetic disorder can be inherited by offspring, but
it may or may not show in the offspring depending on whether the genetic disorder is a dominate or
recessive allele. There are many genetic disorders that humans develop and inherit. Some disorders
cause improvements within the human species while others cause severe retardation of the human
species. In this paper, the genetic disorder Angelman Syndrome will be discussed.
Angelman Syndrome was first discovered in 1965 by English pediatrician Harry Angelman, he
called it "Happy Puppet Syndrome". He had observed three children that were admitted to his
practice that all displayed similar conditions. He was unable to prove that these children were
suffering from "Happy Puppet Syndrome" because of the technology he had so he decided not to
publish any of his research on this disorder. It was not until he was on vacation and saw a painting
of a boy with a puppet, which reminded him of the children that he had treated, that he decided to
report his findings to medical journals. Angelman Syndrome was not heavily researched until the
1980's when reports of this disordered appeared in the United States. In 1987, researchers found that
the cause of Angelman Syndrome was from a missing portion of the genetic code on chromosome
15. Angelman Syndrome is a genetic disorder that

Gabriella Gnaw's Puppet Syndrome
Disease Background
Article notes
An older term for Angelman syndrome is "happy puppet syndrome"
Neuro–Genetic Disorder.
This was primarily named after the English pediatrician, Harry Angelman, who discovered it in
1965.
Harry Angelman, was a pediatrician working in Warrington, England, he first reported three children
with this condition in 1965.
Angelman chose the title "Puppet Children" to describe these cases as being related to an oil
painting he had seen while vacationing in Italy.
Angelman Syndrome is a rare and uncommon brain disorder that occurs once in about every 15,000
births. This primarily affects the nervous system. Many symptoms occur because of the loss of the
function of a gene called UBE3
A classic example of genomic ... Show more content on Helpwriting.net ...
Everyone is curious about why this woman deposited all her winnings on a fairly uncommon
disease. Her response to the reporters was "Angelman Syndrome has affected a family members
very close to me and there is no known cure for it so I am depositing as much money as i possibly
can into funding further research on Angelman Syndrome. As of now there are several research
projects that are going on these days to help find a cure for Angelman Syndrome. The angelman
syndrome foundation (ASF) has invested more than 8 million in Angelman Syndrome research
It has supported more than 78 projects worldwide in the quest to find treatments and a cure.
The Angelman Syndrome Foundation hosts several activities to raise and increase awareness for
Angelman Syndrome. Currently the foundation is holding a walk on May 16th to further increase
awareness.
The foundations sponsors research for the syndrome through grants to hopeful researchers. The ASF
has funded 66 grants which is totaling over 4.6

Haemopolyploid Disorder Lab Report
Polyploidy variation in chromosomal number due to addition of one or more haploid sets of
chromosomes.
Diploid 2n=6, 2n=4
Triploid 3n=9, 3n=6
Tetraploid 4n=12, 4n=8
Pentaploid 5n=15, 5n=10
Hexaploid 6n=18, 6n=12
Causes:
Usual cause is a single egg being fertilized by two sperms. Another cause is a diploid gamete being
fertilized by a normal gamete
Symptoms:
Lethal in humans, common in plants.
Types of polyploidy:
Autopolyploidy
Extra set of chromosomes from the same species.
Diploid 2n=6, AA 2n=4, AA
Triploid 3n=9, AAA 3n=6, AAA
Tetraploid 4n=12, AAAA 4n=8, AAAA
Allopolyploidy
Extra set of chromosome from a different species.
These will usually be infertile due to problems of aligning non–homologous chromosomes during
meiosis. ... Show more content on Helpwriting.net ...
It has three sets of chromosomes (odd numbers of homologous chromosomes). Not all homologous
chromosomes can pair in triploids, they are usually sterile.
Triploid 3n=9, AAB or ABB 3n=6, AAB or ABB
Tetraploid 4n=12, AABB 4n=8, AABB
Aneuploidy 2n+–X
Either containing extra chromosomes or missing chromosomes.
Caused by meiotic nondisjunction.
Types of meiotic nondisjunction:
Failure for homologous chromosomes to separate during anaphase I.

This will result in two gametes receiving extra chromosomes and the other two not receiving a
chromosome.
Failure for sister chromatids to separate during anaphase II.
This will result in one gamete receiving extra chromosomes, one not receiving a chromosome, and
two gametes with 23 chromosomes each.
Examples:
Trisomy 2n+1, having an extra chromosome:
Klinefelter Syndrome (47, XXY), Jakob Syndrome (47, XYY), Down Syndrom (47, 21+), Patau
Syndrome (47, 13+), Edwards Syndrome (47, 18+).
Monosomy 2n–1, missing a

Angelman Syndrome : A Case Study
Angelman Syndrome: A Case Study
Amy Nicole Bishop, MSNA
Westminster College
December 8, 2017 nicolebishop@outlook.com Keywords: Angelman syndrome, pediatric, GABA
receptors, anesthesia, chromosome 15
Angelman syndrome is a rare genetic disorder caused by a mutation on chromosome 15.1 This
syndrome is characterized by severe developmental delays, seizures, ataxia, craniofacial
abnormalities and a "happy demeanor."1&2 The Gamma–aminobutyric acid (GABA) system in the
central nervous system is directly affected by the chromosomal mutation.2 Angelman syndrome
patients have varying responses to anesthetic agents, increased vagal tone, potential difficult airway
and peripheral weakness.3 These characteristics make patients with ... Show more content on
Helpwriting.net ...
A Cormack and Lehane grade 2 view was obtained during laryngoscopy with a mackintosh 3 blade.
A 6.5 cuffless nasal Ring, Adair and Elwyn tube was placed without difficulty.
During maintenance of the anesthesia 4mg of dexamethasone and 4mg of ondansetron were given to
prevent nausea. She received 300ml of lactated ringers. She was ventilated with pressure support.
She remained hemodynamically stable throughout the case. The anesthesia gas was switched to
desflurane towards the end of the case to facilitate an awake extubation. She received an additional
40mg of diprivan with emergence and 25mcg of fentanyl.
Her dental restoration consisted of treating 11 caries and 1 extraction. At the conclusion of the dental
restoration anesthesia gases were stopped. The patient's consciousness returned quickly. She
remained calm and was extubated. She was transfer to the recovery area and later discharged to the
care of her grandfather. Her total anesthesia time was approximately 1.25 hours. Her anesthesia
course was uneventful.
Discussion
Angelman syndrome was first described in the 1960's as "happy puppet syndrome" by Harry
Angelman, a pediatrician.3 This genetic disorder is characterized by severe developmental delay,
seizures, hyperactivity, uncontrollable laughing and smiling, ataxia, speech delays, and sleeping
disorders.4 Phenotypical characteristics that are a concern for anesthesia include microcephaly,

Genetics Exam 2
BioSc 321 General Genetics Exam 2 Name __________________________________
Multiple Choice. (1 point each)
_____During anaphase of the mitosis ___.
A. DNA recombines
B. Sister chromatids move to opposite poles
C. The nuclear membrane disappears
D. RNA replicates
E. DNA content essentially doubles
_____During prophase of mitosis ___.
A. DNA recombines
B. Sister chromatids move to opposite poles
C. The nuclear membrane disappears
D. RNA replicates
E. DNA content essentially doubles
_____An autosome is ___.
A. a non–sex determining chromosome
B. an alternate form of a gene
C. another term for epistasis
D. present only in males and is responsible for sex determination
E. found in mitochondria but not in nuclei
_____What ratios ... Show more content on Helpwriting.net ...
They are associated with the nucleosome.
C. H1, H2, H3 and H4 form the nucleosome core.
D. They are found in the nucleus.
E. H1 functions as a monomer.
_____ Which of the following is not true about chromosome structure?

A. A telomere is always on the end of a eukaryotic chromosome.
B. A centromere is always in the middle of a eukaryotic chromosome
C. A chromatid is a chromosome that has been replicated but has not yet separated from its sister
chromatid.
D. The kinetichore is the site of attachment of the centromere to the nuclear spindle apparatus.
E. Heterochromatin are primarily associated with the centromere and telomere regions.
_____ Mating type refers to
A. the number of sex–chromosomes in a eucharyotic cell.
B. a system in which haploid fungal cells only fuse with fungal cells with a different complement of
alleles.
C. the gametes of a plant which undergoes alternation of generation.
D. the gametophytes of a flowering plant.
E. the sporophytes of a flowering plant.
_____ Which of the following processes occurs in meiosis but not mitosis?
A. Cell division
B. Separation of homologous centromeres to opposite poles
C. Chromatic formation.
D. Chromosome condensation (shortening)
E. Pairing of homologs.
_____ In swine, when a pure–breeding red is crossed with a pure–breeding white the F1 are all red.
However, the F2 shows 9 red, 1 white and 6 of a new color, sandy. The Sandy phenotype is most
likely determined by
A. complementary alleles of two

Assignment On Chromosomal Abberations And Down Syndrome
TERM PAPER EVALUATION
ON
CHROMOSOMAL ABBERATIONS AND DOWN SYNDROME GUIDED BY: SUBMITTED BY:
Dr. SANJEEV KUMAR (Sr.) SHRUTI DHAMEJA
BSM/13/104
B.Sc (H) MEDICAL BIOTECH
DECLARATION
I hereby declare that the term paper entitled
"CHROMOSOMAL ABBERATIONS AND DOWN SYNDROME" submitted to AMITY
INSTITUTE OF BIOTECHNOLOGY, is a record of an original work done by me under the
guidance of Dr. SANJEEV KUMAR (Sr.) and this project work has not performed the basis for the
award of any Degree or diploma/ associateship/fellowship and similar project if any.
SHRUTI DHAMEJA
A0504313004
ACKNOWLEDGEMENT
I take this opportunity to express my profound gratitude and deep regards to my guide Dr. Sanjeev
Kumar (Sr.) for his exemplary guidance, monitoring and constant encouragement throughout the
course of this term paper.
I am obliged to Dr. Nahid Siddique, for the valuable information provided by her. I am grateful for
her cooperation during the period of my assignment.
Lastly, I thank almighty, my parents, brother, sisters and friends for their constant encouragement
without which this assignment would not be possible.
Shruti Dhameja
CONTENTS
SR. NO. TOPIC
1 INTRODUCTION
2 CHROMOSOMAL ABBERATIONS
3 STRUCTURAL ABBERATIONS

⦁ DELETION
⦁ DUPLICATION
⦁ TRANSLOCATION
⦁ INVERSION
4 NUMERICAL ABBERATIONS
⦁ EUPLOIDY
⦁ ANEUPLOIDY
5 DOWN SYNDROME
⦁ DEFINITION
⦁ DIAGNOSIS
⦁ SYMPTOMS
Introduction
Chromosomal aberrations

Notes On Osmosis And Diffusion
Title: Osmosis and Diffusion
Introduction
There are two types of nuclear division, mitosis and meiosis. Mitosis is usually used for the growth
and replacement of somatic cells, while meiosis produces the gametes or spores used in an
organism's reproduction.
Mitosis is the first of these studied in this lab. It is easily observed in cells that are growing at a rapid
pace such as whitefish blastula or onion root tips, which are used in this lab. The root tips contain an
area called the apical meristem that has the highest percentage of cells undergoing mitosis. The
whitefish blastula is formed directly after the egg is fertilized. This is a period of rapid growth and
numerous cellular divisions where mitosis can be observed.
Just before ... Show more content on Helpwriting.net ...
This is where crossing over occurs resulting in the recombination of genes. Metaphase I moves the
tetrads to the metaphase plate in the middle of the cell, and Anaphase I reduces the tetrads to their
original two stranded form and moves them to opposite poles. Telophase I then prepares the cell for
its second division. Meiosis II generally resembles mitosis except that the daughter cells are haploid
instead of diploid. DNA replication does not occur in Interphase II, and prophase, metaphase,
anaphase, and telophase occur as usual. The only change is the number of chromosomes.
The process of crossing over can be easily studied in Sordaria fimicola, an ascomycete fungus.
Sordaria form a set of eight ascospores called an ascus. They are contained in a perithecium until
they are mature and ready for release. Crossing over can be observed in the arrangement and color
of these asci. If an ascus has four tan ascospores in a row and four black ascospores in a row (4:4
arrangement), then no crossing over had taken place. However, if the asci has black and tan
ascospores in sets of two (2:2:2:2 arrangement) or two pairs of black ascospores and four tan
ascospores in the middle (2:4:2 arrangement), then crossing over had taken place.
Hypothesis
Mitosis occurs in whitefish blastula and onion root tip, and it is easily observable. Meiosis and
crossing over occurs in the production of gametes and spores.
Materials
This lab

Haha
Chapter 12: The Cell Cycle Reading guide
Overview:
1. What are the three key roles of cell division? State each role, and give an example.
2. What is meant by the cell cycle?
Concept 12.1 Cell division results in genetically identical daughter cells
3. What is the meaning of genome? Compare your genome to that of a prokaryotic cell.
4. How many chromosomes are in a human somatic cell?
5. Name two types of somatic cells in your body.
6. What is a gamete?
7. Name the two types of gametes.
8. How many chromosomes in a human gamete?
9. Define chromatin.
You are going to have to learn the difference between a number of similar–sounding terms. The
sketch that looks like an X represents a replicated ... Show more content on Helpwriting.net ...
What is the source of these components?
19. In animal cells, the assembly of spindle microtubules starts at the centrosome. What is another
name for the centrosome?
20. Sketch and label a centrosome with two centrioles.
21. Describe what happens to the centrosome during interphase and then prophase.
You will need to spend some serious time with Figure 12.6. Use it to help you label this figure.
Label each phase by name; then label the smaller structures. Finally, make 2 or 3 summary
statements that indicate important features to note about the phase.

Phase: Key features of each phase:
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
–––––––––––––––––––––––––––––––––––––––––––––––––
27. Describe cytokinesis in an animal cell. Use a labeled sketch that shows the cleavage furrow.
28. Describe cytokinesis in a plant cell. Use a labeled sketch that shows the cell plate.
29. How is the cell plate formed? What is the source of the material for the cell plate?
30. Prokaryote reproduction does not involve mitosis, but instead occurs by binary fission. This
process involves an origin of

Rett Syndrome Research Paper
Rett syndrome (RTT) was first described by Andreas Rett in 1966 and thereafter by Bengt Hagberg
and colleagues in 1983.[1, 2] RTT is one of a group of neurodevelopmental disorders most often
caused by de novo mutations in the X–linked methyl–CpG binding protein 2 gene, MECP2.[3, 4]
RTT appears to affect almost exclusively females and the frequency is 1/10,000–15,000 live births
and isusually the result of dominantly acting de novo mutations in MECP2. [2, 3, 5, 6] Females have
two X chromosomes, and random X–chromosome inactivation (XCI) occurs in roughly a 50:50
distribution in RTT patients. The variation in XCI patterns with skewing has been hypothesized to
attribute to the range of severities in clinical phenotypes.[7–10] Patients with RTT

Bio Quiz
View Attempt 3 of 4
Title:
Quiz 2
Started:
April 19, 2009 10:20 PM
Submitted:
April 19, 2009 10:25 PM
Time spent:
00:04:03
Total score:
30/30 = 100% Total score adjusted by 0.0 Maximum possible score: 30
1.
What term describes a harmless noncancerous or precancerous tumor?
Student Response
Value
A. malignant B. benign 100%
C.
metastatic
D. lymphatic E. carcinogenic Score:
1/1
2.
What is the name of the process by which cancer cells break off of tumors and spread to other parts
of the body?
Student Response
Value
A. carcinogenesis B. mutagenesis C. angiogenesis D. metastasis 100%
E.
mitosis

Score:
1/1
3.
Consider a strand of DNA with the sequence GAATTCGGCA. What is the sequence of ... Show
Student Response
Value
A. crossing over during meiosis
B. the number of chromosomes in the cell
C. the number of genes for which different alleles are present
D. random alignment of chromosomes during meiosis
E.
All of the above.
100%
Score:
1/1
16.
A typical gene contains the instructions for making
Student Response
Value
A. a lipid.
B. a protein.
100%
C. a chromosome.
D. a polysaccharide.
E.
All of the above are possible.
Score:
1/1
17.

A mistake made during copying of genetic information is called a
Student Response
Value
A. segregation. B. variance. C. mutation. 100%
D.
genotype.
E. zygote. Score:
1/1
18.
Identical twins are the result of
Student Response
Value
A. one egg being fertilized by two different sperm.
B. one embryo splitting to become two embryos.
100%
C. two eggs each being fertilized by a different sperm.
D. one sperm fertilizing two different eggs.
E.
Both A and B.
Score:
1/1
19.
A heterozygous organism
Student Response
Value
A. always shows a recessive trait.
B. has two identical alleles of a gene.
C. cannot produce gametes.
D. has two different alleles of a gene.
100%
E.

Any of the above may be true, depending on the environment.
Score:
1/1
20.
A mutation in a gene may
Student Response
Value
A. lead to the creation of a nonfunctional protein.
B. result in a

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