POSTNATAL PLACENTAL CONFIRMATION OF TRISOMY-2 AND TRISOMY-16 DETECTED AT CHORIONIC VILLUS SAMPLING - A POSSIBLE ASSOCIATION WITH INTRAUTERINE GROWTH-RETARDATION AND ELEVATED MATERNAL SERUM ALPHA-FETOPROTEIN

被引：27
作者：
FRYBURG, JS
DIMAIO, MS
MAHONEY, MJ
机构：
[1] YALE UNIV,SCH MED,DEPT HUMAN GENET,POB 3333,WWW 330,333 CEDAR ST,NEW HAVEN,CT 06510
[2] YALE UNIV,SCH MED,DEPT PEDIAT,NEW HAVEN,CT 06510
来源：
PRENATAL DIAGNOSIS | 1992年 / 12卷 / 03期
关键词：
CHORIONIC VILLUS SAMPLING; TRISOMY-2; TRISOMY-16; MOSAICISM;
D O I：
10.1002/pd.1970120303
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Detection of trisomy 2 and trisomy 16 mosaicism through chorionic villus sampling (CVS) is not an infrequent finding. We describe here two cases, one of non-mosaic trisomy 2 and the other of high level mosaicism for trisomy 16. Amniocentesis in both cases demonstrated non-mosaic 46,XY karyotypes. Each pregnancy continued to delivery of liveborn, normal-appearing boys; both pregnancies were complicated by severe intrauterine growth retardation (IUGR). Postnatal studies of placental biopsies in both cases confirmed the original CVS findings. whereas cord blood karyotypes were normal in both boys. Both children have demonstrated adequate catch-up growth.
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页码：157 / 162
页数：6
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