Total: 1 |
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PMID (PMCID) | ||
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11675686 |
MALE | Infant, Newborn |
A case of del(13)(q22) with multiple major congenital anomalies, imperforate anus and penoscrotal transposition. | ||
Chung JL, Choi JR, Park MS, Choi SH. Yonsei Med J. 2001;42(5):558-62. |
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On examination the following features were noted: - imperforate anus, ambiguous genitalia (bifid scrotum, penoscrotal transposition, hypospadia), syndactyly of toes, absence of thumbs, abnormal facies (dolichocephaly, telecanthus, large low set ears, saddle nose, high arched palate, micrognathia). |