Trisomy 2: Confined placental mosaicism in a fetus with intrauterine growth retardation

被引：0
作者：
Ariel, I
Lerer, I
Yagel, S
Cohen, R
BenNeriah, Z
Abeliovich, D
机构：
[1] HEBREW UNIV JERUSALEM,DEPT HUMAN GENET,HADASSAH MED SCH,HADASSAH UNIV HOSP,IL-91120 JERUSALEM,ISRAEL
[2] HEBREW UNIV JERUSALEM,HADASSAH UNIV HOSP,HADASSAH MED SCH,DEPT OBSTET & GYNECOL,JERUSALEM,ISRAEL
[3] HEBREW UNIV JERUSALEM,HADASSAH UNIV HOSP,HADASSAH MED SCH,DEPT PATHOL,PERINATAL PATHOL UNIT,JERUSALEM,ISRAEL
来源：
PRENATAL DIAGNOSIS | 1997年 / 17卷 / 02期
关键词：
trisomy; 2; CPM; IUGR;
D O I：
10.1002/(SICI)1097-0223(199702)17:2<180::AID-PD31>3.0.CO;2-#
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
In a pregnancy that was monitored due to increased risk for Down syndrome in the triple test, a normal karyotype was found in amniocentesis. Follow-up by serial ultrasound examinations revealed intrauterine growth retardation (IUGR) at 20 weeks of gestation. The parents decided to terminate the pregnancy and the karyotype of the placental fibroblasts was 47,XX,+2. Analysis of polymorphic markers of chromosome 2 demonstrated (a) that trisomy 2 was confined to the placenta (CPM), (b) that the trisomy 2 cell line was a result of a meiotic I error of paternal origin, and (c) that the fetal tissues with a normal karyotype were biparental disomy 2. (C) 1997 by John Wiley & Sons, Ltd.
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页码：180 / 183
页数：4
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