Chromosome abnormality in Kallmann syndrome
- 1 March 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 35 (3) , 306-309
- https://doi.org/10.1002/ajmg.1320350303
Abstract
We report on an individual with Kallman syndrome (KS) and a balanced de novo translocation (7;12)(q22,q24). None of 6 full sibs, 3 halfsibs, or parents have KS or this chromosome translocation. This is the only known report of KS with a chromosome abnormality. This may represent a spurious association or genetic heterogeneity vis‐a‐vis the reported linkage of KS to the steroid sulphatase gene on the X chromosome. The pathophysiology and genetics of KS are discussed.Keywords
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