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Question 70 of 85

Q.Name a human genetic disorder due to the following :

(a) An additional X-chromosome in a male
(b) Deletion of one X-chromosome in a female
(OR)
State what does aneuploidy lead to.
Punjab PsebCBSE Class XII Board 2019Subjective· 1mImportance★★★★★
82% · 70/85 Questions
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Part (a): additional X in a male → Klinefelter's syndrome (XXY); loss of an X in a female → Turner's syndrome (XO).

Part (b): aneuploidy → genetic disorders / developmental abnormalities from unbalanced chromosome number.

Part (a)

A normal human has 46 chromosomes (23 pairs); errors in chromosome number cause specific syndromes.

  • (a) An additional X-chromosome in a male gives a karyotype of 47, XXY. This causes Klinefelter's syndrome — the individual is phenotypically male but often shows some feminine features (e.g. gynaecomastia), small testes and sterility. …

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