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Klinefelter's syndrome associated with a D/D translocation
Journal of Medical Genetics
|September 1, 1975
Summary
This study describes a rare case of Klinefelter's syndrome occurring with a familial D/D translocation. Despite the translocation, affected individuals exhibited typical Klinefelter's syndrome features without other apparent abnormalities.
Area of Science:
- Genetics
- Endocrinology
- Psychiatry
Background:
- Klinefelter's syndrome is a genetic condition affecting males, characterized by the presence of an extra X chromosome.
- D/D translocations are chromosomal rearrangements involving specific chromosome types, which can have varied clinical implications.