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Xxy Genetic Disorder

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What is the value of karyotypes as a diagnostic tool & a genetic tool?

Also,
What process is resposible for abnormal karyotypes?
Answer pleaseee and thank you!

Karyotypes look at the chromosomes as a whole. Karyotyping can therefore detect and diagnose large scale deletions, translocations, aneuploidy etc. Genetically speaking, they also help us understnad the modes of inheritance.

Abnormal karyotypes are the results of errors during meiosis. Deletions, inversions, translocations, errors in segregation

Here are some examples
Turner syndrome results from a single X chromosome (45, X or 45, X0).
Klinefelter syndrome, the most common male chromosomal disease, otherwise known as 47, XXY is caused by an extra X chromosome.
Edwards syndrome is caused by trisomy (three copies) of chromosome 18.
Down syndrome, a common chromosomal disease, is caused by trisomy of chromosome 21.
Patau syndrome is caused by trisomy of chromosome 13.
Also documented are trisomy 8, trisomy 9 and trisomy 16, although they generally do not survive to birth.
Some Disorders arise from loss of just a piece of one chromosome, including

Cri du chat (cry of the cat), from a truncated short arm on chromosome 5. The name comes from the babies’ distinctive cry, caused by abnormal formation of the larynx.
1p36 Deletion syndrome, from the loss of part of the short arm of chromosome 1.
Angelman syndrome – 50% of cases have a segment of the long arm of chromosome 15 missing.

Project 47 XXY – Living with Klinefelter’s Syndrome

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