Molecular cytogenetic characterization of del(X)(p22.33)mat and de novo dup(4)(q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly

• Asıl Yazarlar: Chih-Ping Chen (Yazar), Jian-Pei Huang (Yazar), Yi-Yung Chen (Yazar), Shin-Wen Chen (Yazar), Schu-Rern Chern (Yazar), Peih-Shan Wu (Yazar), Fang-Tzu Wu (Yazar), Yen-Ting Pan (Yazar), Wen-Lin Chen (Yazar), Chen-Wen Pan (Yazar), Wayseen Wang (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Elsevier, 2023-05-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Objective: We present molecular cytogenetic characterization of del(X) (p22.33)mat and de novo dup(4) (q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly. Case report: A 36-year-old, gravida 3, para...