Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects

Objective: To describe the ultrasonographic, pathologic and molecular findings in a fetus with TAR syndrome, and to illustrate the contribution of chromosomal microarray analysis (CMA) to the etiological investigation of fetal upper limb reduction defects. Case report: A 35-year-old woman was referr...

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Bibliographic Details
Main Authors: André M. Travessa, Patrícia Dias, Antónia Santos, Sónia Custódio, Ana Sousa, Ana Berta Sousa
Format: Article
Language:English
Published: Elsevier 2020-03-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455920300243