[Rare structural rearrangement of the Y chromosome (Yq-,S) in the family of a boy with a sex differentiation disorder].
In an 8-year old boy with bilateral cryptorchism the heterochromatin region deletion of Y-chromosome and the satellites in its long arm were found (karyotype 46, XYq-S). The same Y-chromosome was found in proband's father. Moreover, the proband had large brilliant satellites in the chromosome 22 and a very large segment of centromeric heterochromatin in the chromosome 1; both were inherited from his mother. The abnormal Y-chromosome is, probably, due to an exchange with heterochromatin regions between an acrocentric chromosome and Y-chromosome. The combination of above peculiarities of proband's chromosome set is supposed to promote the sex differentiation disorders in embryogenesis which led to an incomplete masculinization.
D002648:Child; D002872:Chromosome Deletion; D002904:Chromosomes, Human, 21-22 and Y / Q000648:ultrastructure; D003456:Cryptorchidism / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D012728:Sex Chromatin / Q000648:ultrastructure; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014178:Translocation, Genetic; D014998:Y Chromosome / Q000648:ultrastructure
Redkaia strukturnaia perestroĭka Y-khromosomy (Yq-,S) v sem'e mal'chika s narusheniem polovoĭ differentsirovki.