Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting.
AUTOR(ES)
Schinzel, A
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051777Documentos Relacionados
- Reconstruction of genomic rearrangements in great apes and gibbons by chromosome painting.
- Complex translocation in a boy with trichorhinophalangeal syndrome.
- Identification of bacterial cells by chromosomal painting.
- Extra chromosome in Kallmann's syndrome.
- Clustering of breakpoints on chromosome 10 in acute T-cell leukemias with the t(10;14) chromosome translocation.