Literature DB >> 8372072

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

P Labrune1, J C Pons, M Khalil, V Mirlesse, M C Imbert, M Odièvre, F Daffos, G Tchernia, R Frydman.   

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.

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Year:  1993        PMID: 8372072     DOI: 10.1002/pd.1970130607

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  3 in total

1.  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.

Authors:  Sabine Uhrig; Dietmar Schlembach; Julie Waldispuehl-Geigl; Werner Schaffer; Jochen Geigl; Eva Klopocki; Stefan Mundlos; Michael R Speicher
Journal:  Am J Hum Genet       Date:  2007-10       Impact factor: 11.025

2.  Thrombocytopenia-absent radius syndrome: a clinical genetic study.

Authors:  K L Greenhalgh; R T Howell; A Bottani; P J Ancliff; H G Brunner; C C Verschuuren-Bemelmans; E Vernon; K W Brown; R A Newbury-Ecob
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

3.  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.

Authors:  Irene Bottillo; Marco Castori; Carmelilia De Bernardo; Romano Fabbri; Barbara Grammatico; Nicoletta Preziosi; Giovanna Sforzolini Scassellati; Evelina Silvestri; Antonella Spagnuolo; Luigi Laino; Paola Grammatico
Journal:  BMC Res Notes       Date:  2013-09-22
  3 in total

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