Which chromosomal anomaly is associated with ‘Cat eye syndrome’?
Correct Answer: Paial trisomy 22
Description: Cat eye Syndrome is a congenital malformation syndrome associated with the presence of trisomy or tetrasomy of a segment of chromosome 22q11.2 Ref: Atlas of Genetic Diagnosis And Counseling, Humana Press, 2006; Hereditary Hearing Loss and Its Syndromes, Oxford University Press, 1995, Page 363; Inherited Cardiac Disease, Oxford University Press, 14-Jul-2011, Page 120; Dorland's 28th Edition, Page 1626
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Pediatrics
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