Deletion of the long arm of the Y chromosome and review of Y chromosome abnormalities.
We report on a patient whose karyotype is 45,X/46,X,del(Y) (pter----q11.212). We also present a review of literature on the Y chromosome in which evidence is presented that there are genes on the Y chromosome that prevent Ullrich-Turner syndrome manifestations; aid in testes maturation and spermatogenesis; and affect height, tooth size, and bone maturation.
D000328:Adult; D001846:Bone Development; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013091:Spermatogenesis; D014070:Tooth / Q000254:growth & development; D014998:Y Chromosome
D004247:DNA