title: A 45,X male with Y-specific DNA translocated onto chromosome 15.
abstract: A 20-year-old male patient with chromosomal constitution 45,X, testes and normal external genitalia was examined. Neither mosaicism nor a structurally aberrant Y chromosome was observed when routine cytogenetic analysis was performed on both lymphocytes and skin fibroblasts. Y chromosome-specific single-copy and repeated DNA sequences were detected in the patient's genome by means of 11 different recombinant-DNA probes of known regional assignment on the human Y chromosome. Data indicated that the short arm, the centromere, and part of the long-arm euchromatin of the Y chromosome have been retained and that the patient lacks deletion intervals 6 and 7 of Yq. High-resolution analysis of prometaphase chromosomes revealed additional euchromatic material on the short arm of one of the patient's chromosomes 15. After in situ hybridization with the Y chromosome-specific probe pDP105, a significant grain accumulation was observed distal to 15p11.2, suggesting a Y/15 chromosomal translocation. We conclude that some 45,X males originate from Y-chromosome/autosome translocations following a break in the proximal long arm of the Y chromosome.
authors.forename: A
authors.initials: A
authors.lastname: Gal
authors.forename: B
authors.initials: B
authors.lastname: Weber
authors.forename: G
authors.initials: G
authors.lastname: Neri
authors.forename: A
authors.initials: A
authors.lastname: Serra
authors.forename: U
authors.initials: U
authors.lastname: Müller
authors.forename: W
authors.initials: W
authors.lastname: Schempp
authors.forename: D C
authors.initials: DC
authors.lastname: Page
mesh_terms: D000328:Adult; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D014178:Translocation, Genetic; D014998:Y Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA