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

1995; BMJ; Volume: 32; Issue: 12 Linguagem: Inglês

10.1136/jmg.32.12.957

1468-6244

Albert Schinzel, Isabel Lorda‐Sánchez, Franz Binkert, N P Carter, Charlotte E. Bebb, M.A. Ferguson‐Smith, Urs Eiholzer, M. Zachmann, Wendy P. Robinson,

DNA and Nucleic Acid Chemistry

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.