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

• मुख्य लेखकों: André M. Travessa (लेखक), Patrícia Dias (लेखक), Antónia Santos (लेखक), Sónia Custódio (लेखक), Ana Sousa (लेखक), Ana Berta Sousa (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Elsevier, 2020-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...