Prenatal diagnosis of a de novo supernumerary marker derived from chromosome 16

被引：10

作者：

Hengstschläger, M ^{[1
]}

Bettelheim, D ^{[1
]}

Drahonsky, R ^{[1
]}

Deutinger, J ^{[1
]}

Bernaschek, G ^{[1
]}

机构：

[1] Univ Vienna, A-1090 Vienna, Austria

来源：

PRENATAL DIAGNOSIS | 2001年 / 21卷 / 06期

关键词：

prenatal diagnosis; supernumerary marker; chromosome; 16; mosaicism; FISH analysis;

D O I：

10.1002/pd.95

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Marker chromosomes are supernumerary chromosomes of unknown origin and are seldom found in prenatal diagnosis. Application of fluorescent in situ hybridization (FISH) allows the identification of the chromosomal origin of markers. Estimation of the risk of an abnormal phenotype outcome can be enabled by collecting data on phenotypes associated with markers of the same chromosomal origin. So far only very few cases of prenatal diagnosis of de novo supernumerary markers derived from chromosome 16 have been reported. Here the prenatal diagnosis of a de novo supernumerary marker chromosome 16 is described and the relevant literature discussed. Copyright (C) 2001 John Wiley & Sons, Ltd.

引用

页码：477 / 480

页数：4

共 25 条

[1] SWEDISH SURVEY ON EXTRA STRUCTURALLY ABNORMAL CHROMOSOMES IN 39105 CONSECUTIVE PRENATAL DIAGNOSES - PREVALENCE AND CHARACTERIZATION BY FLUORESCENCE IN-SITU HYBRIDIZATION [J].