Partial deletion of 4p in fetal cells not present in chorionic villi
作者:
Bernd Eiben,
Michael Leipoldt,
Ingrid Schübbe,
Rainer Ulbrich,
Ingo Hansmann,
期刊:
Clinical Genetics
(WILEY Available online 1988)
卷期:
Volume 33,
issue 1
页码: 49-52
ISSN:0009-9163
年代: 1988
DOI:10.1111/j.1399-0004.1988.tb04264.x
出版商: Blackwell Publishing Ltd
关键词: chorionic villi;deletion 4p;mosaicism;placenta;prenatal diagnosis
数据来源: WILEY
摘要:
A case of a prenatal diagnosis at the second trimester is presented showing a normal karyotype in 12 metaphases from chorionic villi. In all cultured amniotic cells, however, and also in all fetal fibroblasts analyzed after abortion a structural anomaly (46,XY;del 4(pter→p15.2) was detected. Prenatal diagnosis was performed because of intrauterine growth retardation, cleft lip and esophagus atresia by ultrasound. The fetal stigmata are compatible with the Wolf Hirschhorn syndrome. We conclude that amniocentesis may be indicated notwithstanding a normal CV‐diagnosis in those rare pregnancies with a characteristically abnormal ultraso
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