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Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis.

作者信息

Donnenfeld A E, Wiseman B, Lavi E, Weiner S

机构信息

Section of Genetics, Pennsylvania Hospital, Philadelphia 19107.

出版信息

Prenat Diagn. 1990 Jan;10(1):29-35. doi: 10.1002/pd.1970100106.

DOI:10.1002/pd.1970100106
PMID:2179938
Abstract

The prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome, utilizing ultrasound and cordocentesis, is described. To our knowledge, this represents the first prenatal diagnosis of this condition in an index case. The diagnostic evaluation of a fetus with upper extremity limb reduction defects is discussed.

摘要

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引用本文的文献

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Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.1q21.1微缺失和RBM8A低表达等位基因复合杂合导致的血小板减少-桡骨缺失（TAR）综合征胎儿的产前诊断和尸检：病例报告
BMC Res Notes. 2013 Sep 22;6:376. doi: 10.1186/1756-0500-6-376.