title: A possible fragile-site at Yq12: case report and possible relevance to de novo structural rearrangements of the Y-chromosome.
abstract: In a routine chromosome study it was noted that cells from a patient had different lengths of Y-chromosome: 20% of the cells had a Y-chromosome with about 40% of the normal length of heterochromatin, whereas the majority of cells had an average size Yq12 region. A break within Yq12 was found in 3-4% of the cells with the long Yq12 chromosome, indicating the presence of a possible new fragile site. The frequency of cells with the 2 different sizes of Y-chromosomes was unaffected by culture conditions, as was the frequency of cells with a break or gap. Possible consequences of a fragile-site within Yq12 are discussed.
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics; D002871:Chromosome Banding; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D005260:Female; D006570:Heterochromatin / Q000648:ultrastructure; D006801:Humans; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D011247:Pregnancy; D014178:Translocation, Genetic; D014998:Y Chromosome
chemical_list: D006570:Heterochromatin