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The karyotype designation for an infant with a deletion in the short arm of chromosome 5...

The karyotype designation for an infant with a deletion in the short arm of chromosome 5 (cri du chat syndrome) is

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Cru chi chat syndrome or 5p- (5p minus) syndrome is a genetic disorder caused by deletion of genetic material on small arm or p arm of chromosome 5. It is named so because of the high pitched sound of the defective infants which sounds like that of a cat. There is intellectual disability and delayed development in children. The infants have a small head size, with a low birth weight, and weakened muscle tone. The facial feature of the infants is distinctive.

The karyotype designation is 46, XY, del5p or 46, XX, del5p.

If the region deleted is known, then it will be 46, XY, del5p15.1 or 46, XX, del5p15.1, if deleted region is 15.1. If deleted region is 14.2, then it becomes 46, XY, del5p14.2 or 46, XX, del5p14.2. XY indicates a male child while XX indicates a female child. The del 5p indicates that there is a deletion in short arm of chromosome 5.

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