A case of Klinefelter's syndrome and a simultaneous familial D/D translocation is described. The clinical, endocrine, and psychiatric features were typical of those found in Klinefelter's syndrome. Other family members showed no obvious abnormality despite presence of the D/D translocation.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1013294PMC
http://dx.doi.org/10.1136/jmg.12.3.299DOI Listing

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