Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting.
Prometaphase chromosomes from a 16 year old boy with hypogonadotrophic hypogonadism and anosmia (Kallmann syndrome) showed a tiny chromosome fragment attached to the long arm of one chromosome 1 without a visible reciprocal translocation chromosome. Chromosome painting with libraries from chromosomes 1 and X excluded a t(X;1) translocation, but failed to detect a second translocation chromosome. Through reverse chromosome painting, an unbalanced der(1), t(1;10) (q44;q26) translocation could be detected. This is the third case of Kallmann syndrome with a de novo rearrangement between two autosomes. The distal long arm of chromosome 1 may contain a candidate locus for a gene, mutations of which may cause the Kallmann phenotype; a 10q location seems less likely.
Schinzel
A
A
Institute of Medical Genetics, University of Zürich, Switzerland.
Lorda-Sanchez
I
I
Binkert
F
F
Carter
N P
NP
Bebb
C E
CE
Ferguson-Smith
M A
MA
Eiholzer
U
U
Zachmann
M
M
Robinson
W P
WP
D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D006801:Humans; D017436:Kallmann Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000523:psychology; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*; D014463:Ultrasonography