Y-to-X chromosome translocation observed in two generations.
A family is reported in which the mother and two sons are carriers of a Y-X translocation. The distal segment of the short arm of the X chromosome appears to have been deleted to give place to a translocation of the distal part of the long arm of the Y chromosome. Apart from short stature the mother is essentially free of stigmata, while the sons show a combination of mental retardation, hypertelorism, simian creases, clinodactyly, scanty palmar lines, and dry fragile skin. The cases described are discussed against the background of the few known previously published cases.
D000293:Adolescent; D000328:Adult; D001827:Body Height; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D005260:Female; D006579:Heterozygote; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D012730:Sex Chromosomes; D014178:Translocation, Genetic