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A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition

Authors
 Jae Lim Chung  ;  Jong Rak Choi  ;  Min Soo Park  ;  Seung Hun Choi 
Citation
 YONSEI MEDICAL JOURNAL, Vol.42(5) : 558-562, 2001 
Journal Title
 YONSEI MEDICAL JOURNAL 
ISSN
 0513-5796 
Issue Date
2001
MeSH
Abnormalities, Multiple/genetics* ; Anus, Imperforate/complications* ; Chromosomes, Human, Pair 13/genetics* ; Fatal Outcome ; Gene Deletion* ; Humans ; Infant, Newborn ; Male ; Penis/abnormalities* ; Scrotum/abnormalities*
Keywords
chromosomes 13 ; deletion ; imperforate anus ; penoscrotal transposition
Abstract
"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 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 (Rt:2, Lt:1) 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.
Files in This Item:
T200102074.pdf Download
DOI
10.3349/ymj.2001.42.5.558
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Park, Min Soo(박민수) ORCID logo https://orcid.org/0000-0002-4395-9938
Choi, Seung Hoon(최승훈)
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/142356
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