Literature DB >> 8456820

Kallmann syndrome associated with complex chromosome rearrangement.

A C Casamassima1, P L Wilmot, B K Vibert, L R Shapiro.   

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.

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Year:  1993        PMID： 8456820     DOI： 10.1002/ajmg.1320450502

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  2 in total

1.  Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting.

Authors:  A Schinzel; I Lorda-Sanchez; F Binkert; N P Carter; C E Bebb; M A Ferguson-Smith; U Eiholzer; M Zachmann; W P Robinson
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

Review 2.  Kallmann syndrome: fibroblast growth factor signaling insufficiency?

Authors:  Catherine Dodé; Jean-Pierre Hardelin
Journal:  J Mol Med (Berl)       Date:  2004-09-08       Impact factor: 4.599
  2 in total

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