Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son.
A t(X;Y)(p223;q11) was studied in a mother and son who share features of Turner's syndrome (short stature, mild brachymesomelia, unusual dermatoglyphics) as well as mental deficiency. In the majority of the mother's cells the extra chromosome is late replicating. Ten previous cases are summarized, and the significance of Xp deletions is discussed.
D000328:Adult; D001789:Blood Group Antigens / Q000235:genetics; D002675:Child, Preschool; D003878:Dermatoglyphics; D004392:Dwarfism / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome / Q000648:ultrastructure; D014998:Y Chromosome / Q000648:ultrastructure
D001789:Blood Group Antigens