A REVISIT OF TRISOMY-20 MOSAICISM IN PRENATAL-DIAGNOSIS - AN OVERVIEW OF 103 CASES

被引：61
作者：
HSU, LYF
KAFFE, S
PERLIS, TE
机构：
[1] NYU,SCH MED,DEPT PEDIAT,NEW YORK,NY 10003
[2] CUNY MT SINAI SCH MED,DEPT PEDIAT,NEW YORK,NY 10029
来源：
PRENATAL DIAGNOSIS | 1991年 / 11卷 / 01期
关键词：
TRISOMY-20; CHROMOSOME MOSAICISM; PRENATAL DIAGNOSIS;
D O I：
10.1002/pd.1970110103
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
One hundred and three cases with prenatal diagnosis of trisomy 20 mosaicism through amniocentesis were reviewed. Approximately 90 per cent (90/101) of the cases were associated with grossly normal phenotype. It is likely that, in the majority of cases, cells with trisomy 20 were extraembryonic in origin or largely confined to the placenta. However, in some cases, the cells with trisomy 20 were confined to certain specific fetal organs or tissues such as kidney, skin, etc. Cytogenetic follow-up studies in liveborns should include a culture from urine sediment.
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页码：7 / 15
页数：9
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