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

• Hoofdauteurs: Chih-Ping Chen (Auteur), Hsu-Kuang Huang (Auteur), Pei-Ying Ling (Auteur), Yi-Ning Su (Auteur), Ming Chen (Auteur), Fuu-Jen Tsai (Auteur), Pei-Chen Wu (Auteur), Schu-Rern Chern (Auteur), Yu-Ting Chen (Auteur), Chen-Chi Lee (Auteur), Wayseen Wang (Auteur)
• Formaat: Boek
• Gepubliceerd in: Elsevier, 2011-12-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...