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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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However, additional published studies in the literature suggest careful follow-up is necessary and contradict the generalization that females with Xp; Yq translocations are usually normal except for short stature.

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She had no evidence of Kallmann syndrome, gonadoblastoma, or cardiovascular disease.Translocations involving the X and Y chromosome may affect reproductive function.

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They occur because of pairing of homologous sequences of the pseudoautosomal regions of Xp and Yq in paternal meiosis [].


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