Translocation t(1;17)(q12;q25) with a clinical picture like of a proximal deletion of 1q: identification by in situ hybridization with chromosome 1-specific satellite DNA probes.
The authors report a case of a balanced 1;17 translocation with breakpoints located in the secondary constriction of chromosome 1. This translocation is associated with pathological symptoms similar to those observed following a proximal deletion of 1q. We request contact with colleques who have observed similar, or related, cases of translocation with breakpoints in heterochromatic regions of human chromosomes.
Vorsanova
S G
SG
Institute of Pediatrics and Children's Surgery, MH of the USSR, Moscow.
Yurov
Y B
YB
Kurbatov
M B
MB
Kazantzeva
L Z
LZ
D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002886:Chromosomes, Human, Pair 17; D015342:DNA Probes; D004276:DNA, Satellite / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D014178:Translocation, Genetic
D015342:DNA Probes; D004276:DNA, Satellite