Kallmann syndrome associated with complex chromosome rearrangement

A C Casamassima; P L Wilmot; B K Vibert; L R Shapiro

doi:10.1002/ajmg.1320450502

Kallmann syndrome associated with complex chromosome rearrangement

Am J Med Genet. 1993 Mar 1;45(5):539-41. doi: 10.1002/ajmg.1320450502.

Authors

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

Affiliation

¹ Department of Pediatrics, New York Medical College, Valhalla 10595.

PMID: 8456820
DOI: 10.1002/ajmg.1320450502

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.

Publication types

Case Reports

MeSH terms

Adult
Chromosome Aberrations*
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 9
Humans
Kallmann Syndrome / genetics*
Karyotyping
Male
Translocation, Genetic