Intrachromosomal insertion translocation resulting in duplication of chromosome band Yq11.2 in two fertile brothers

Chromosome analysis in a couple referred because of two spontaneous abortions showed a normal 46,XX karyotype in the 28‐year‐old female and an aberrant Y chromosome with an enlarged short arm in the 30‐year‐old male. Subsequent chromosome analysis showed that his 33‐year‐old brother was carrier of the same Y chromosome aberration. Further characterization of the aberrant Y chromosome with FISH using probes specific for chromosome bands Yp11.32, Yq11.2, the centromere and the subtelomeric region of the p‐arm of the Y chromosome showed that chromosome band Yq11.2 was duplicated and inserted in the p‐arm of the Y chromosome. Combining the results of the analysis of GTG‐banded chromosomes and of the FISH analysis we conclude that both patients have a 46,X,ins dup(Y)(pter → p11.23::q12 → q11.1::p11.23 →) karyotype. The clinical and cytogenetical findings are reported and discussed. © 2003 Wiley‐Liss, Inc.