title: [Familial translocation 22/Y and partial autosomal trisomy in a young girl].
abstract: Report on a translocation t(22;Y)(q12;p 13) with conservation of the NOR in normal members from 2 generations of a family. The proposita has in addition a small autosomal duplication, probably (1)(q44-ter) which could explain her mental deficiency.
mesh_terms: D002871:Chromosome Banding; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014314:Trisomy; D014998:Y Chromosome
vernacular_title: Translocation 22/Y familiale et trisomie partielle autosomique chez une jeune fille.