PRENATAL-DIAGNOSIS OF TRISOMY-9 MOSAICISM - 2 NEW CASES

被引：16

作者：

MERINO, A

DEPERDIGO, A

NOMBALAIS, F

YVINEC, M

LEROUX, MG

BELLEC, V

机构：

[1] CHU NANTES,CYTOGENET ANTENATALE LAB,F-44000 NANTES,FRANCE

[2] CHU NANTES,SERV ANAT PATHOL,F-44000 NANTES,FRANCE

[3] CHU NANTES,SERV OBSTET & GYNECOL,F-44000 NANTES,FRANCE

[4] CHU NANTES,BIOL MOLEC LAB,F-44000 NANTES,FRANCE

[5] CHR NANTES,CYTOGENET ANTENATALE LAB,PAVILLON MERE & ENFANT,F-44035 NANTES 01,FRANCE

来源：

PRENATAL DIAGNOSIS | 1993年 / 13卷 / 10期

关键词：

TRISOMY-9; MOSAICISM; PRENATAL DIAGNOSIS;

D O I：

10.1002/pd.1970131016

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present two prenatal cases of trisomy 9 mosaicism, both of which presented intrauterine growth retardation (IUGR) and other abnormal ultrasound findings. In case A, mosaicism was found in amniotic fluid cell cultures, of which 65 per cent were trisomic cells, on average. In case B, trisomic cells were present in amniotic fluid cell cultures (12 per cent) but none were found in fetal cord blood. After autopsy, cytogenetic findings were confirmed in different tissue cultures. It is concluded that echographic indicators are a very useful tool for a correct prenatal diagnostic interpretation of trisomy 9. Suspected trisomy 9 mosaicism always requires further investigation and fetal cord blood cytogenetic analysis may not be considered as providing an accurate diagnosis of fetal trisomy 9.

引用

页码：1001 / 1007

页数：7