Chromosomal disorders occur when there are changes in the number or structure of chromosomes. These changes can result in problems with growth, development and body functioning. There are two main types of chromosomal disorders: numerical aberrations which are changes in chromosome number, and structural aberrations which are changes in chromosome structure such as deletions, duplications, translocations, inversions, and ring chromosomes. Common chromosomal disorders include Down syndrome, Klinefelter syndrome, and Turner syndrome.
Chromosomal Disorders. The types of chromosomal disorders: structural, deletion or addition. Down's syndrome, Turner's syndrome, Klinefelter's syndrome, Patau syndrome. Hope this presentation will help you.
A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA. It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes
Karyotyping is the process by which photographs of chromosomes are taken in order to determine the chromosome complement of an individual, including the number of chromosomes and any abnormalities.
The term is also used for the complete set of chromosomes in a species or in an individual organism and for a test that detects this complement or measures the number.
Epigenetics is the study, in the field of genetics, of cellular and physiological phenotypic trait variations that are caused by external or environmental factors that switch genes on and off and affect how cells read genes instead of being caused by changes in the DNA sequence. -Wikipedia
Chromosomal Disorders. The types of chromosomal disorders: structural, deletion or addition. Down's syndrome, Turner's syndrome, Klinefelter's syndrome, Patau syndrome. Hope this presentation will help you.
A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA. It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes
Karyotyping is the process by which photographs of chromosomes are taken in order to determine the chromosome complement of an individual, including the number of chromosomes and any abnormalities.
The term is also used for the complete set of chromosomes in a species or in an individual organism and for a test that detects this complement or measures the number.
Epigenetics is the study, in the field of genetics, of cellular and physiological phenotypic trait variations that are caused by external or environmental factors that switch genes on and off and affect how cells read genes instead of being caused by changes in the DNA sequence. -Wikipedia
Types of chromosomes, basic structural features, chromosomal numbers, chromosomal banding, molecular organization of eukaryotic chromosome, MARS/SARS. Heterochromatin, euchromatin structures; structural organization of centromeric region, components and structure of Kinetochore, difference between mitotic kinetochores and meiotic kinetochores; structural organization of telomeres, proteins involved in heterochromatization of telomeric regions. Structural organization and molecular biology of salivary gland and Lampbrush chromosomes, importance of their study at specific stages of development.
Chromosome structure and packaging of dnaDIPTI NARWAL
Chromosome structure : classification based upon centromere position, autosomes and allosomes
Morphology of chromosome: chromatids, chromomeres, telomeres, sister chromatids
packaging of DNA: nucleosome model
functions of Chromosomes
Vitamins as coenzymes, different forms and deficiency disorders Lovnish Thakur
Vitamins are organic compounds which are needed in small quantities to sustain life.
Get from food, because the human body either does not produce enough of them, or none at all
Niosomes are a novel drug delivery system, in which the medication is encapsulated in a vesicle. The vesicle is composed of a bilayer of non-ionic surface active agents and hence the name niosomes.
Small herb-use as a medicine & ritualistic worship
leaves, seeds, roots, flowers and the stem- recommended for their healing properties in Ayurvedic medicine system
chemical composition-
highly complex
containing many
nutrients and other
biological active
Compounds
A knockout mouse is a mouse in which a specific gene has been inactivated or“knocked out” by replacing it or disrupting it with an artificial piece of DNA.
The loss of gene activity often causes changes in a mouse's phenotype and thus provides valuable information on the function of the gene.
Protein which are major component of our diet have amino acid as their precursor and also act as important energy source. Any imbalance in the metabolism of these amino acid cause disorders
Central nervous system (CNS) lymphoma is a disease in which malignant (cancer) cells form in the lymph tissue of the brain and/or spinal cord
Fatal Condition
x-rays, MRI and computed tomography (CT) scans
Lack technique for early diagnosis
Pharmacopoeia: the word derives from the ancient Greek word pharmakon means drug & poeia- to make.
It is a legally binding collection, prepared by a national or regional authority& contains list of medicinal substances, crude drug & formulas for making preparation from them.
A membrane protein is a protein molecule that is attached to, or associated with the membrane of a cell or an organelle.
More than half of all proteins interact with membranes.
Gel electrophoresis native, denaturing&reducingLovnish Thakur
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Colorants or coloring agents are mainly used to impart a distinctive appearance to the pharmaceutical dosage forms.
We can also say that the colorants are the cosmetics for the pharmaceutical preparations, because the aesthetic appearance of dosage forms can be enhanced by using suitable colorants.
Optical rotatory dispersion is the variation in the optical rotation of a substance with a change in the wavelength of light.
For wavelengths that are absorbed by the optically active sample, the two circularly polarized components will be absorbed to differing extents. This unequal absorption is known as circular dichroism.
ATP synthase—also called FoF1 ATPase is the universal protein that terminates oxidative phosphorylation by synthesizing ATP from ADP and phosphate.
ATP Synthase is one of the most important enzymes found in the mitochondria of cells
Read| The latest issue of The Challenger is here! We are thrilled to announce that our school paper has qualified for the NATIONAL SCHOOLS PRESS CONFERENCE (NSPC) 2024. Thank you for your unwavering support and trust. Dive into the stories that made us stand out!
Unit 8 - Information and Communication Technology (Paper I).pdfThiyagu K
This slides describes the basic concepts of ICT, basics of Email, Emerging Technology and Digital Initiatives in Education. This presentations aligns with the UGC Paper I syllabus.
The French Revolution, which began in 1789, was a period of radical social and political upheaval in France. It marked the decline of absolute monarchies, the rise of secular and democratic republics, and the eventual rise of Napoleon Bonaparte. This revolutionary period is crucial in understanding the transition from feudalism to modernity in Europe.
For more information, visit-www.vavaclasses.com
This is a presentation by Dada Robert in a Your Skill Boost masterclass organised by the Excellence Foundation for South Sudan (EFSS) on Saturday, the 25th and Sunday, the 26th of May 2024.
He discussed the concept of quality improvement, emphasizing its applicability to various aspects of life, including personal, project, and program improvements. He defined quality as doing the right thing at the right time in the right way to achieve the best possible results and discussed the concept of the "gap" between what we know and what we do, and how this gap represents the areas we need to improve. He explained the scientific approach to quality improvement, which involves systematic performance analysis, testing and learning, and implementing change ideas. He also highlighted the importance of client focus and a team approach to quality improvement.
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The Roman Empire, a vast and enduring power, stands as one of history's most remarkable civilizations, leaving an indelible imprint on the world. It emerged from the Roman Republic, transitioning into an imperial powerhouse under the leadership of Augustus Caesar in 27 BCE. This transformation marked the beginning of an era defined by unprecedented territorial expansion, architectural marvels, and profound cultural influence.
The empire's roots lie in the city of Rome, founded, according to legend, by Romulus in 753 BCE. Over centuries, Rome evolved from a small settlement to a formidable republic, characterized by a complex political system with elected officials and checks on power. However, internal strife, class conflicts, and military ambitions paved the way for the end of the Republic. Julius Caesar’s dictatorship and subsequent assassination in 44 BCE created a power vacuum, leading to a civil war. Octavian, later Augustus, emerged victorious, heralding the Roman Empire’s birth.
Under Augustus, the empire experienced the Pax Romana, a 200-year period of relative peace and stability. Augustus reformed the military, established efficient administrative systems, and initiated grand construction projects. The empire's borders expanded, encompassing territories from Britain to Egypt and from Spain to the Euphrates. Roman legions, renowned for their discipline and engineering prowess, secured and maintained these vast territories, building roads, fortifications, and cities that facilitated control and integration.
The Roman Empire’s society was hierarchical, with a rigid class system. At the top were the patricians, wealthy elites who held significant political power. Below them were the plebeians, free citizens with limited political influence, and the vast numbers of slaves who formed the backbone of the economy. The family unit was central, governed by the paterfamilias, the male head who held absolute authority.
Culturally, the Romans were eclectic, absorbing and adapting elements from the civilizations they encountered, particularly the Greeks. Roman art, literature, and philosophy reflected this synthesis, creating a rich cultural tapestry. Latin, the Roman language, became the lingua franca of the Western world, influencing numerous modern languages.
Roman architecture and engineering achievements were monumental. They perfected the arch, vault, and dome, constructing enduring structures like the Colosseum, Pantheon, and aqueducts. These engineering marvels not only showcased Roman ingenuity but also served practical purposes, from public entertainment to water supply.
Welcome to TechSoup New Member Orientation and Q&A (May 2024).pdfTechSoup
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This presentation provides a briefing on how to upload submissions and documents in Google Classroom. It was prepared as part of an orientation for new Sainik School in-service teacher trainees. As a training officer, my goal is to ensure that you are comfortable and proficient with this essential tool for managing assignments and fostering student engagement.
Operation “Blue Star” is the only event in the history of Independent India where the state went into war with its own people. Even after about 40 years it is not clear if it was culmination of states anger over people of the region, a political game of power or start of dictatorial chapter in the democratic setup.
The people of Punjab felt alienated from main stream due to denial of their just demands during a long democratic struggle since independence. As it happen all over the word, it led to militant struggle with great loss of lives of military, police and civilian personnel. Killing of Indira Gandhi and massacre of innocent Sikhs in Delhi and other India cities was also associated with this movement.
Palestine last event orientationfvgnh .pptxRaedMohamed3
An EFL lesson about the current events in Palestine. It is intended to be for intermediate students who wish to increase their listening skills through a short lesson in power point.
2. WHAT ARE CHROMOSOMAL
DISORDERS
• A chromosomal disorder occurs when there is
a change in the number or structure of the
chromosomes.
• This change in the amount, or arrangement of,
the genetic information in the cells may result
in problems in growth, development and/or
functioning of the body systems.
3. Studying Human Chromosomes
• Clinical Cytogenetics: study of
chromosomes, their structure and inheritance
• Karyotype: chromosome constitution (46,XX
or 46,XY)
• Chromosomes are identified by their size,
position of the centromere and their banding
pattern.
4.
5. Chromosome nomenclature
short arms are labeled “p” (petit)
long arms are labeled “q” (queue)
• Each chromosome is divided into regions, labeled
p1,p2,p3…. and q1,q2,q3…. counting outwards from
the centromere. Regions are divided into bands and
sub-bands labeled p11.1, 012.3, p13.5 ….) (read as
one-one.one, not eleven.one)
• Centromere is designated ‘cen’ and telomere ‘ter’
7. Types of Chromosomal Abnormalities
There are two main types of chromosomal
disorders:
• Numerical Aberrations-: changes in
chromosome number
• Structural Aberrations-:changes in
chromosome structure
8. Structural
Aberrations
• Structural chromosome rearrangements are changes in the physical
structure of chromosomes that may result in-:
• birth defects
• mental retardation
• increased risk for infertility
• pregnancy loss.
Due to-:
chromosomal breakage or unequal crossing over which result in
• Deletions
• ring chromosomes
• Duplications
• Translocations
• insertions
• inversions.
10. Duplications
• Duplications are unbalanced rearrangements
that result in partial trisomy.
• Duplications are believed to
result primarily from
unequal crossing over
especially in regions of
the genome where repeat
sequences are found.
11. Translocations
• Translocations involve breaks in two different
chromosomes with an exchange of segments.
In humans, there are two major types of
translocation:
• Reciprocal translocations-: in which there is no
visual loss of chromatin
• Robertsonian translocations-: in which the long
arms of two acrocentric chromosomes are joined
with loss of the two short arms.
12.
13. Inversions
• Inversions are formed by two breaks in the
same chromosome with exchange of the two
ends.
Types-:
• Pericentric Inversions
• Paracentric Inversions
14. Pericentric -
chromosome in
which one break
occurs in each arm
of the chromosome
and, thus, the
centromere is
included in the
inverted segment
Paracentric-
chromosome is
formed when both
breaks occur in the
same arm and,
therefore, the
centromere is not
included in the
inverted
segment
15. Numerical Aberrations
• Numerical aberrations represent a significant
proportion of chromosomal changes found in
humans.
Constitutive (present in all cells) due to meiosis
Mosaic (present in some cells) due to mitosis
They represent a significant cause of pregnancy loss
as well as abnormalities found in live births.
16. Meiotic Non-disjunction
• Chromosome non-disjunction is defined as the
unbalanced segregation of chromosomes
leading to aneuploidy
• may occur at-
• meiosis I(when homologous chromosomes
segregate to opposite poles)
• meiosis II (when the two sister chromatids
separate at the centromere and segregate to
opposite poles)
18. Sex Chromosome Aneuploidies
45,X (Turner syndrome)
Features of Turner syndrome present in the
newborn include redundant neck skin and
peripheral lymphoedema
Congenital heart disease
There is an increased risk of
adrenal anomalies, hypertension, autoimmune,
thyroid disease, and obesity.
19. Klinefelter syndrome
• 47,XXY
• is the most common cause of hypogonadism
and male infertility, accounting for about 10% of
infertile men.
http://www.klinefelters.org/links.htm
20. Autosomal Aneuploidies
Down syndrome (trisomy 21)
Dysmorphic facial appearance,
with a flattened facial profile
flattened nasal bridge
protruding tongue.
22. Uniparental Disomy
• Cells with UPD may have a numerically
balanced
• chromosome complement but are unbalanced
in terms of parental contribution.
• For e.g. -:an egg with an extra chromosome is
fertilized by a sperm which was missing that
same chromosome