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Question 46 of 68

Q.Write about the uses of karyotyping.

Puducherry TnboardTamil Nadu HSC (DGE) Board 2016Subjective· 3mImportance★★★★★
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Karyotyping visually displays an individual's full chromosome complement and is a key clinical/diagnostic tool for detecting chromosomal disorders.

Uses:

  • Detecting numerical (aneuploidy) abnormalities: e.g., trisomy 21 (Down syndrome), Klinefelter syndrome (47, XXY), Turner syndrome (45, X0), Edward syndrome (trisomy 18).
  • Detecting structural abnormalities: deletions, duplications, inversions, and translocations of chromosome segments — e.g., the Philadelphia chromosome (a translocation between chromosomes 9 and 22) associated with chronic myeloid leukaemia.
  • Prenatal diagnosis: fetal cells obtained via amniocentesis or chorionic villus sampling can be karyotyped to detect chromosomal disorders before birth. …

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