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Kallmann syndrome associated with complex chromosome rearrangement
A C Casamassima1, P L Wilmot, B K Vibert
1Department of Pediatrics, New York Medical College, Valhalla 10595.
American Journal of Medical Genetics
|March 1, 1993
Abstract:
We report on a male with Kallmann syndrome (KS) and an apparently balanced complex chromosome rearrangement (CCR): 46,XY,t(3; 9)(9;12)(q13.2;q21.2p13;q15). This is the first known report of a CCR in the KS and the second reported case of a definitive autosomal chromosome abnormality with KS. Possible relationships between the cytogenetic abnormality and KS are discussed.