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Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome.

作者信息

Labrune P, Pons J C, Khalil M, Mirlesse V, Imbert M C, Odièvre M, Daffos F, Tchernia G, Frydman R

机构信息

Service de Pédiatrie and Consultation de Génétique, Hôpital Antoine Béclère, Clamart, France.

出版信息

Prenat Diagn. 1993 Jun;13(6):463-6. doi: 10.1002/pd.1970130607.

DOI:10.1002/pd.1970130607
PMID:8372072
Abstract

Three fetuses with TAR (thrombocytopenia with absent radii) or TAR variant syndrome were found to be thrombocytopenic during the third trimester of the pregnancy. These findings indicate that fetal blood sampling, besides ultrasonography, skeletal radiographs, or even fetoscopy, may indeed contribute to the prenatal diagnosis of TAR syndrome, and thus may help in differentiating TAR syndrome from other syndromes with malformations of the upper limbs.

摘要

相似文献

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引用本文的文献

1
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.
2
Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.通过产前诊断血小板减少-桡骨缺失（TAR）综合征相关的1q21.1微缺失所证明的阵列比较基因组杂交衍生信息对遗传咨询的影响。
Am J Hum Genet. 2007 Oct;81(4):866-8. doi: 10.1086/521338.
3
Thrombocytopenia-absent radius syndrome: a clinical genetic study.血小板减少伴桡骨缺失综合征：一项临床遗传学研究。
J Med Genet. 2002 Dec;39(12):876-81. doi: 10.1136/jmg.39.12.876.