title: Intrachromosomal insertion translocation resulting in duplication of chromosome band Yq11.2 in two fertile brothers.
abstract: 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.
authors.affiliation: Research Institute Growth and Development, Department of Clinical Genetics, University Maastricht, The Netherlands. john.engelen@gen.unimaas.nl
authors.forename: J J M
authors.initials: JJ
authors.lastname: Engelen
authors.forename: Y H J M
authors.initials: YH
authors.lastname: Arens
authors.forename: E T C M
authors.initials: ET
authors.lastname: Gondrie
authors.forename: M G P
authors.initials: MG
authors.lastname: Alofs
authors.forename: W H
authors.initials: WH
authors.lastname: Loneus
authors.forename: A J H
authors.initials: AJ
authors.lastname: Hamers
mesh_terms: D000026:Abortion, Habitual; D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D041322:Chromosomes, Human, Y; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D014178:Translocation, Genetic