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Long-term follow-up of females with unbalanced X;Y

The study purpose was to define the phenotype of a family with t(X; Y)(p22.3;q11.2), determine long-term reproductive function, and compare to all reported female cases.

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She had no evidence of Kallmann syndrome, gonadoblastoma, or cardiovascular disease.

N3904 MMBT3904 PZT3904 - NPN General. - Mouser

N3904 MMBT3904 PZT3904 - NPN General. - Mouser

Translocations involving the X and Y chromosome may affect reproductive function.They occur because of pairing of homologous sequences of the pseudoautosomal regions of Xp and Yq in paternal meiosis [].

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Detailed analysis of 50 published female cases indicated a uniform lack of follow-up and snificant morbidity—intellectual disability (10%), facial dysmorphism (28%), eye abnormalities (14%), and skeletal defects (28%).


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