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 for amniocentesis at 18 weeks of gestation because of… (More)
DOI: 10.1016/j.tjog.2011.10.014

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