The problem of partial trisomy 22 reconsidered.
A patient with partial trisomy 22(PT22) is presented. Inheritance is presumed to be due to secondary nondisjunction in her mother, who has a balanced translocation t(11;22)(q25;q13). The problem of the phenotypic heterogeneity observed with this chromosome change is discussed.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002675:Child, Preschool; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy