A case of del(13)(q22) with multiple major congenital anomalies, imperforate anus and penoscrotal transposition

"13q-" syndrome is known to have widely variable manifestations, including retinoblastoma, mental & growth retardation, malformation of brain & heart, anal atresia, and anomalies of the face and limbs. Here we report a case o f del(13)(q22) with multiple major congenital anomalies for the first time in Korea. The patient was born at 36(+4) weeks of pregnancy by caesarian se ction. Birth weight was 1490g. On examination the following features were n oted: - imperforate anus, ambiguous genitalia (bifid scrotum, penoscrotal t ransposition, hypospadia), syndactyly of toes, absence of thumbs, abnormal facies (dolichocephaly, telecanthus, large low set ears, saddle nose, high arched palate, micrognathia). Neurocranial ultrasonography showed atrophy o f the corpus callosum and multiple calcifications. He died at 14 days. Post -mortem autopsy findings showed cholestasis and fatty metamorphosis of live r, abnormal lobulation (Rt:2, Lt:1) and lymphangiectasis of the lung, VSD, ASD, PDA of heart, and acute tubular necrosis of kidney. Cytogenetic studie s was confirmed to 46,XY,del(13) (q22) by Giemsa banded chromosomes from pe ripheral blood lymphocytes.