A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings

• Main Authors: Chih-Ping Chen (Author), Hsu-Kuang Huang (Author), Pei-Ying Ling (Author), Yi-Ning Su (Author), Ming Chen (Author), Fuu-Jen Tsai (Author), Pei-Chen Wu (Author), Schu-Rern Chern (Author), Yu-Ting Chen (Author), Chen-Chi Lee (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2011-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objectives: To present prenatal diagnosis and molecular cytogenetic characterization of de novo partial partial trisomy 21q (21q22.11→qter) associated with clinodactyly and hypoplastic midphalanx of the fifth fingers, midface hypoplasia, and an intracardiac echogenic focus on prenatal ultrasound. Ma...