[Familial, structural aberration of the Y chromosome with fertility disorders].
Cytogenetic studies on a patient with Klinefelter's syndrome revealed an inherited, structural aberration of the Y-chromosome which has not been described before. The aberrant Y-chromosome was characterized by eight different banding methods. The value of individual staining techniques in studies on Y-heterochromatin aberrations is emphasized. Analysis of the cytogenetic studies (banding methods, restriction endonuclease of DNA, and measurement of the length of the Y-chromosome) permits an interpretation to be made on how the aberrant Y-chromosome originated. The functions of the Y-chromosome are discussed. The decrease in fertility (cryptozoospermia) in the two brothers with the same aberrant Y-chromosome was striking.
D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009845:Oligospermia / Q000235:genetics*; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013076:Sperm Count; D013081:Sperm Motility; D014998:Y Chromosome
Familiäre, strukturelle Aberration des Y-Chromosoms mit Fertilitätsstörungen.