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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Bibliografiska uppgifter

Huvudupphov:	Chih-Ping Chen, Schu-Rern Chern, Chen-Yu Chen, Pei-Chen Wu, Li-Feng Chen, Chen-Wen Pan, Wayseen Wang
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Elsevier 2011-12-01
Serie:	Taiwanese Journal of Obstetrics & Gynecology
Ämnen:	48,XXY,+18 Double aneuploidy Klinefelter syndrome Nondisjunction Parental origin Trisomy 18
Länkar:	http://www.sciencedirect.com/science/article/pii/S1028455911001732
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