Chromosomal and gene aberrations such as duplications, deletions, inversions, and translocations can be caused by errors during meiosis. Structural aberrations result from chromosomal breaks and can include deletions where a chromosome segment is missing, duplications where an extra copy is present, inversions where a segment is reversed, and translocations where segments are exchanged between non-homologous chromosomes. While some structural aberrations like balanced translocations may not cause phenotypic effects, others can result in disorders depending on the genes involved. Modern techniques like FISH allow for detection of smaller aberrations compared to traditional staining and microscopy.
A chromosomal disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA. It can be from a typical number of chromosomes or a structural abnormality in one or more chromosomes. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. The term "karyotype" refers to the full set of chromosomes from an individual.
Chromosomal aberrations are disruptions in the normal chromosomal content of a cell.
In other words, they are changes in the number and or arrangement of genes in the chromosomes.
Presenting on the chromosomal aberration both in structure and number. Insight view in some disorders caused by chromosomal aberration including down syndrome, Patau syndrome, Edward syndrome and XY sex chromosome.
A chromosomal disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA. It can be from a typical number of chromosomes or a structural abnormality in one or more chromosomes. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. The term "karyotype" refers to the full set of chromosomes from an individual.
Chromosomal aberrations are disruptions in the normal chromosomal content of a cell.
In other words, they are changes in the number and or arrangement of genes in the chromosomes.
Presenting on the chromosomal aberration both in structure and number. Insight view in some disorders caused by chromosomal aberration including down syndrome, Patau syndrome, Edward syndrome and XY sex chromosome.
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from parents to offspring, DNA contains the specific instructions that make each type of living creature unique. The term chromosome comes from the Greek words for color (chroma) and body (soma). In the present slide, the structural chromosomal aberration is discussed. The diseases caused due to such aberrations are also explained. Hope you all enjoy. Feel free to comment if have any further clarifications.
What is it? And Classification Genetic Syndrome
Its effect on animal reproduction and Production Effects on Animal Breeding
Detection of Chromosomal Abnormality Detection of chromosomal abnormality
Define 'structural chromosomal abnormalities;
define and describe each of the following.
Deletion
Inversion
Ring chromosome
Duplication
Translocation
Robertsonian translocation
Isochromosome
Illustrate the features of some cytogenetic
disorders:
Down syndrome.
Cri du chat.
Turner syndrome.
Klinefelter syndrome.
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from parents to offspring, DNA contains the specific instructions that make each type of living creature unique. The term chromosome comes from the Greek words for color (chroma) and body (soma). In the present slide, the structural chromosomal aberration is discussed. The diseases caused due to such aberrations are also explained. Hope you all enjoy. Feel free to comment if have any further clarifications.
What is it? And Classification Genetic Syndrome
Its effect on animal reproduction and Production Effects on Animal Breeding
Detection of Chromosomal Abnormality Detection of chromosomal abnormality
Define 'structural chromosomal abnormalities;
define and describe each of the following.
Deletion
Inversion
Ring chromosome
Duplication
Translocation
Robertsonian translocation
Isochromosome
Illustrate the features of some cytogenetic
disorders:
Down syndrome.
Cri du chat.
Turner syndrome.
Klinefelter syndrome.
The advances likes Next Generation Sequencing is more advanced than Microarray Compatability Genomic hybridization and it is 100% of sensitivity and specificity regarding aneuploidy sequencing from all biological samples.
Structural Chromosomal aberrations (Change in Structure of Chromosome)Asad Afridi
this presentation is about chromosomal aberration especially change in structure of chromosome. different types of structural chromosomal aberrations are also discussed. effects of different aberration are also included.
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Interested in deploying notification automations for Bonterra Impact Management? Contact us at sales@sidekicksolutionsllc.com to discuss next steps.
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• Test Automation: How AI-powered test case generation, optimization, and self-healing tests are making testing more efficient and effective.
• Visual Testing: Explore the emerging capabilities of AI in visual testing and how it's set to revolutionize UI verification.
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Neuro-symbolic is not enough, we need neuro-*semantic*Frank van Harmelen
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GDG Cloud Southlake #33: Boule & Rebala: Effective AppSec in SDLC using Deplo...James Anderson
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Bob Boule
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Cheryl Hung, ochery.com
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Cyber risk predictions
Axis of attacks – Europe
Systemic attacks in the Middle East
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Length: 30 minutes
Session Overview
-------------------------------------------
During this webinar, we will cover the following topics while demonstrating the integrations of JMeter, InfluxDB and Grafana:
- What out-of-the-box solutions are available for real-time monitoring JMeter tests?
- What are the benefits of integrating InfluxDB and Grafana into the load testing stack?
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Deepak Rai, Automation Practice Lead, Boundaryless Group and UiPath MVP
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FIDO Alliance Osaka Seminar: Passkeys at Amazon.pdf
Genetics
1. CHROMOSOMAL
AND
GENE ABERRATION
(Duplication, Deletion, Inversion, Translocation)
ENDAYA, DANICA FAYE M.
MANGOSING VIDA FAYE S.
2. Introduction
Congenital abnormalities can be caused by an
anomaly in the number or structure of the
chromosomes. Disorders in the
gametogenesis, that is, in the first and second
meiotic divisions in the formation of oocytes
and sperm cells, lead to such defects.
3. Staining method
Chromosomal mutations can be
made visible with staining methods
(banding techniques). Following
the staining the chromosomes are
analyzed using a 1000x
enlargement. With this one can
recognize the chromosomes as
striped cords and display them in a
karyogram, after they have been
ordered according to their size and
the positions of the centromeres.
Various groups of similar
chromosomes are created in this
4. Today, small aberrations are examined using a
molecular cytogenetic (FISH) approach.
Among other things, the FISH (fluorescence-in-
situ-hybridizing) method makes possible the
targeted identification of partial aneuploidies
such as deletions, duplications and unbalanced
translocations (see below) that cannot be
resolved with a light microscope.
A comprehensive array of DNA probes and
techniques are today available from which one
can choose for utilization, depending on the
diagnostic problem being worked on. With the
FISH method chromosomal alterations can be
analyzed down to a size of ca. 5 million
nucleotides
6. Structural aberrations are the result of
chromosomal breaks that occur during
meiosis.
deletion,
duplication
isochromosome formation lead to an abnormal phenotype.
while;
insertion
inversion
translocation can be balanced.
This means that the carrier of this structural chromosome
aberration can escape notice phenotypically, because the
entire genetic material is present.
7. Deletion
A deletion can happen in every chromosome
and exhibit every size. The consequences of a
deletion depends on the size of the missing
segment and which genes are found on it.
8. Cri du Chat syndrome
A partial deletion on the short
arm (p) of chromosome 5 is
responsible for the
“cri du chat" syndrome
The "cri du chat" syndrome
manifests itself through cat-like
crying of the newborn. This
disorder is accompanied by
microcephaly, severe
psychosomatic and mental
retardation and cardiac defects.
9. Duplication
A chromosome duplication is the
doubling of a chromosome piece.
A duplication is sometimes termed a
"partial trisomy".
If, therefore, a duplication is
present, the person is equipped with
3 copies of the genes in the
associated chromosome segment.
This means that extra directions
(genes) are present, leading to
congenital abnormalities or
developmental problems.
10. Fragile X syndrome
The fragile X syndrome results
from multiple duplications of a
CGG segment (trinucleotide) in
the 5' untranslated region of the
FMR1 gene on the X chromosome
(Xq27).
Since it is an X linked mutation
men are more affected than
women. The fragile X syndrome
leads to one of the most frequent
forms of inherited mental
retardation. In addition, the
syndrome causes a
prognathism, the face is long and
small and the patient has large
11. Inversion
If chromosome pieces that have been broken
out become inserted again, but reversed, an
inversion has occurred.
The phenotype of this disorder is usually
unobtrusive, since the entire chromosomal
information is still present.
12. When the interchanged region includes the
centromere, one refers to it as a pericentric
inversion,
14. Insertion
If chromosome pieces are reinserted
somewhere else, this is referred to as an
insertion. Carriers of such insertions can be
phenotypically inconspicuous because no
information has been lost.
15. Isochromosomiebildung
Isochromosome formation is a relatively frequent
chromosomal aberration, mainly in X
chromosomes. Here the chromosomes are not
divided along their length (see the normal division
of the chromosomes figure) but transversely.
The resulting isochromosomes (karyogram) either
have two short or two long arms. Persons with this
X chromosome anomaly have the same
phenotype as patients suffering from Turner's
syndrome (45, X0). This is explained by the fact
that a X chromosome arm is missing.
17. Reciprocal translocation
In a reciprocal translocation two broken
off chromosome pieces of non-
homologous chromosomes are
exchanged. This is a relatively frequent
anomaly. One finds it with an incidence
of 1:500 newborns.
18. Reciprocal translocations are frequently
balanced because the entire genetic material
is present. Problems occur, though, in gamete
formation.
19. Cancer and Tumors
Today it is known that balanced
translocations can also lead to
pathogenic disorders in that proto-
oncogenes, which as normal
genes in their customary
environment are frequently
responsible for the controlling cell
proliferation, can be transformed
into oncogenes through
translocation events. They are
the cause for the origin of many
tumors and types of cancer
because in other environments they
achieve totally different effects.
20. Robertsonian translocation
Another frequently observed
anomaly (1:1'000 newborns) is
the robertsonian
translocation, which occurs
between two acrocentric
chromosomes of groups G
and D. It is also referred to as
the centric fusion of two
acrocentric chromosomes.
21. Carriers of such robertsonian translocations
are phenotypically inconspicuous. Also
here, though, problems arise when it comes to
gamete formation because, normally, the
diploid chromosome set is halved thereby.