PRENATAL-DIAGNOSIS OF A FETUS WITH PARTIAL MONOSOMY 7(Q34-]QTER) AND PARTIAL TRISOMY 18(Q21-]QTER)

被引：4
|
作者：
PLUCHON, E
GIOVANGRANDI, Y
LABBE, F
LEBRIS, MJ
COLLET, M
BRETTES, JP
RIVIERE, D
RIVIERE, MR
机构：
[1] FAC MED BREST,SERV GYNECOL OBSTET,F-29200 BREST,FRANCE
[2] UNIV BRETAGNE OCCIDENTALE,CHU,F-29200 BREST,FRANCE
来源：
PRENATAL DIAGNOSIS | 1993年 / 13卷 / 10期
关键词：
PRENATAL DIAGNOSIS; PARTIAL MONOSOMY-7Q; PARTIAL TRISOMY-18Q; CLEFT LIP AND PALATE; HOLOPROSENCEPHALY;
D O I：
10.1002/pd.1970131013
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Ultrasound examination of a 31-year-old woman at 27 weeks' gestation revealed fetal growth retardation, a bilateral cleft lip and palate, and the absence of median cerebral structures. Chromosome analysis after cordocentesis showed an abnormal karyotype with a structural abnormality of the long arm of chromosome 7: 46,XX, - 7, + der(7), t(7;18) (q34;q21.3)mat. The pregnancy was terminated at week 29. The ultrasound findings were confirmed by post-mortem examination, which also revealed a semilobar holoprosencephaly.
引用
收藏
页码：983 / 988
页数：6
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