A 45,X male with Y-specific DNA translocated onto chromosome 15.
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.
Gal
A
A
Weber
B
B
Neri
G
G
Serra
A
A
Müller
U
U
Schempp
W
W
Page
D C
DC
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
D005819:Genetic Markers; D004247:DNA