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Title: Chromosomal aberrations
Description: It gives you all necessary description about chromosomal abnormalities,chromsomal disorders.

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Structural and Numerical Variations in chromosome

KARYOTYPING

Chromosomal aberrations are abnormalities in the number or
microscopically observable structure of chromosomes
...

Peripheral Blood Karyotyping Medium With Mitogen
(Phytohemagglutinin PHA) is intended for use in short-term
cultivation of peripheral blood lymphocytes for chromosome
evaluation

A chromosome is divided by its centromer into short arm (p) and long arm (q)
...

Submetacentric: If arms' lengths are unequal
...
It is written as 46,XX,5p
...

Group B: chromosomes 4-5 are large with submedian centromere
Group C: chromosomes 6-12 are medium sized with submedian centromere
Group D: chromosomes 13-15 are medium sized with acrocentric centromere 11
Group E: chromosomes 16-18 are short with median or submedian centromere
Group F: chromosomes 19-20 are short with median centromere
Group G: chromosomes 21-22 are very short with acrocentric centromere
...

Chromosome Y is similar to group G

Chromosomal Structural aberrations

trisomy 21
Down syndrome is typically caused by what is called
nondisjunction
...

When that egg unites with a normal sperm to form an
embryo, the embryo ends up with three copies of
chromosome 21 instead of the normal two
...

Down syndrome is also caused by a Robertsonian
translocation

a flat face, a small broad nose, abnormally
shaped ears, a large tongue, and upwardslanting eyes with small folds of skin in the
corners
...


intellectual disability;

Klinefelter syndrome

Klinefelter syndrome is named for Dr
...

XXY is one of the most common genetic
conditions, affecting about 1 in 660 genetic males
...



Title: Chromosomal aberrations
Description: It gives you all necessary description about chromosomal abnormalities,chromsomal disorders.