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

• Asıl Yazarlar: André M. Travessa (Yazar), Patrícia Dias (Yazar), Antónia Santos (Yazar), Sónia Custódio (Yazar), Ana Sousa (Yazar), Ana Berta Sousa (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Elsevier, 2020-03-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...