title: A case of trisomy 22 with a probable Robertsonian translocation 21/22.
abstract: A 2-year-old girl with a prabable trisomy-22 translocation is described. The principal clinical symptoms described by the authors who have reported cases with proved trisomy 22 are presented. A probable 46,XX,-21,+t(21q;22q) karyotype was established in the patient. The proband's clinical picture is compared with other trisomy 22 cases described in the literature. The incidence of this trisomy among the human population is discussed.
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002904:Chromosomes, Human, 21-22 and Y; D005145:Face / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy