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

• Main Authors: André M. Travessa (Author), Patrícia Dias (Author), Antónia Santos (Author), Sónia Custódio (Author), Ana Sousa (Author), Ana Berta Sousa (Author)
• Format: Book
• Published: Elsevier, 2020-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...