A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition
Yonsei Medical Journal
;
: 558-562, 2001.
Artículo
en Inglés
| WPRIM
| ID: wpr-189133
ABSTRACT
"13q-"syndrome is known to have widely variable manifestations, including retinoblastoma, mental and growth retardation, malformation of brain and heart, anal atresia, and anomalies of the face and limbs. Here we report a case of 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 section. Birth weight was 1490g. 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). Neurocranial ultrasonography showed atrophy of the corpus callosum and multiple calcifications. He died at 14 days. Post-mortem autopsy findings showed cholestasis and fatty metamorphosis of liver, abnormal lobulation (Rt2, Lt1) and lymphangiectasis of the lung, VSD, ASD, PDA of heart, and acute tubular necrosis of kidney. Cytogenetic studies was confirmed to 46,XY,del(13) (q22) by Giemsa banded chromosomes from peripheral blood lymphocytes.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Ano Imperforado
/
Pene
/
Escroto
/
Anomalías Múltiples
/
Cromosomas Humanos Par 13
/
Eliminación de Gen
/
Resultado Fatal
Límite:
Humanos
/
Masculino
/
Recién Nacido
Idioma:
Inglés
Revista:
Yonsei Medical Journal
Año:
2001
Tipo del documento:
Artículo
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