Prenatal diagnosis and molecular cytogenetic characterization of a pure ring chromosome 21 with a 4.657-Mb 21q22.3 deletion

• Main Authors: Chih-Ping Chen (Author), Liang-Kai Wang (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Shin-Wen Chen (Author), Fang-Tzu Wu (Author), Yun-Yi Chen (Author), Dai-Dyi Town (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2021-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present diagnosis and molecular cytogenetic characterization of a pure ring chromosome [r(21)] with a 4.657-Mb 21q22.3 deletion. Case report: A 44-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype 46,XX,...