Double aneuploidy with Edwards-Klinefelter syndromes (48,XXY,+18) of maternal origin: Prenatal diagnosis and molecular cytogenetic characterization in a fetus with arthrogryposis of the left wrist and aplasia of the left thumb

• Main Authors: Chih-Ping Chen (Author), Schu-Rern Chern (Author), Chen-Yu Chen (Author), Pei-Chen Wu (Author), Li-Feng Chen (Author), Chen-Wen Pan (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2011-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To present the prenatal diagnosis and molecular investigation of the parental origin and mechanism of nondisjunction underlying an 48,XXY,+18 karyotype in a fetus with congenital abnormalities, and to review the literature. Materials, Methods, and Results: A 42-year-old woman was referred...