Trisomy 13 mosaicism at prenatal diagnosis: Dilemmas in interpretation

被引：0
作者：
Delatycki, MB
Pertile, MD
Gardner, RJM
机构：
[1] Royal Childrens Hosp, Victorian Clin Genet Serv, Parkville, Vic 3052, Australia
[2] Royal Hosp Women, Dept Cytogenet, Melbourne, Vic, Australia
来源：
PRENATAL DIAGNOSIS | 1998年 / 18卷 / 01期
关键词：
trisomy; 13; mosiacism; prenatal diagnosis; pseudomosaicism;
D O I：
10.1002/(SICI)1097-0223(199801)18:1<45::AID-PD216>3.0.CO;2-C
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We describe six cases of trisomy 13 mosaicism detected al prenatal diagnosis. Most level I and level II trisomy 13 mosaicism detected at prenatal diagnosis is pseudomosaicism or confined placental mosaicism. Rarely, low-level mosaicism at chorionic villus sampling or amniocentesis reflects a true fetal mosaicism. In this case, a normal phenotype is a possible, but not a certain, outcome. Genetic counselling is not straightforward. (C) 1998 John Wiley & Sons, Ltd.
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页码：45 / 50
页数：6
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