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This question was created from Quest 1 DQs_Genetics-1.docx


16. Case: A 2300-gm male infant was born at 37 weeks' gestational age to a 25-year-old mother. This
was her sixth pregnancy; she had had two previous children and three spontaneous abortions. At
birth, multiple congenital anomalies were noted, including bilateral cleft lip and palate,
microcephaly, polydactyly, low-set abnormally shaped ears, and undescended testes. Cytogenetic
evaluation of the infant showed 46,XY, +13,der(13;14)(q10;q10).

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