Fetal t(5p;21q) misdiagnosed as monosomy 21: a plea for in situ hybridization studies.
作者信息
Gill P, Uhrich S, Disteche C, Cheng E
机构信息
Department of Obstetrics and Gynecology, University of Washington Medical Center, Seattle.
出版信息
Am J Med Genet. 1994 Oct 1;52(4):416-8. doi: 10.1002/ajmg.1320520405.
PMID:7747753
Abstract
We report a case of 45,XY,-5,-21,+der (5) t(5;21) (p13 or p14;q11.2 or q21) that was prenatally misdiagnosed as complete monosomy 21 and terminated at 24 weeks of gestation. Subsequent fluorescence in situ hybridization studies with a chromosome 21 painting probe documented the cryptic unbalanced translocation.
摘要
Zotero 插件