FETAL T(5P21Q) MISDIAGNOSED AS MONOSOMY-21 - A PLEA FOR IN-SITU HYBRIDIZATION STUDIES

被引：17
|
作者：
GILL, P
UHRICH, S
DISTECHE, C
CHENG, E
机构：
[1] UNIV WASHINGTON,MED CTR,DEPT OBSTET & GYNECOL,SEATTLE,WA 98195
[2] UNIV WASHINGTON,MED CTR,DEPT PATHOL,SEATTLE,WA 98195
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 52卷 / 04期
关键词：
FETAL T(5P; 21Q); MISDIAGNOSED; UNBALANCED TRANSLOCATION; COMPLETE MONOSOMY 21;
D O I：
10.1002/ajmg.1320520405
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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. (C) 1994 Wiley-Liss, Inc.
引用
收藏
页码：416 / 418
页数：3
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