Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array-comparative genomic hybridization.

doi:10.1111/j.1365-2362.2009.02141.x

Article

Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array-comparative genomic hybridization.

European journal of clinical investigation - 1 Aug 2009

Guo Q S, Qin S Y, Zhou S F, He L, Ma D, Zhang Y P, Xiong Y, Peng T, Cheng Y, Li X T

Abstract excerpt

BACKGROUND: There are only three cases of unbalanced translocation (X;1) reported in childhood in the literature, while no such phenotypic information is available in adults. MATERIALS AND METHODS: To delineate the phenotype-genotype relationship of unbalanced translocation (X;1) in adulthood, we reported here a 20-year-old female with an unbalanced translocation (X;1) which was determined by spectral...

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Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array-comparative genomic hybridization.

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Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array-comparative genomic hybridization.

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