Kallmann syndrome associated with complex chromosome rearrangement.
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.
Casamassima
A C
AC
Department of Pediatrics, New York Medical College, Valhalla 10595.
Wilmot
P L
PL
Vibert
B K
BK
Shapiro
L R
LR
D000328:Adult; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D002893:Chromosomes, Human, Pair 3; D002899:Chromosomes, Human, Pair 9; D006801:Humans; D017436:Kallmann Syndrome / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic