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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

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...

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Hoofdauteurs: Chih-Ping Chen, Schu-Rern Chern, Chen-Yu Chen, Pei-Chen Wu, Li-Feng Chen, Chen-Wen Pan, Wayseen Wang
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2011-12-01
Reeks:Taiwanese Journal of Obstetrics & Gynecology
Onderwerpen:
48,XXY,+18
Double aneuploidy
Klinefelter syndrome
Nondisjunction
Parental origin
Trisomy 18
Online toegang:http://www.sciencedirect.com/science/article/pii/S1028455911001732
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