A case of partial trisomy 17 resulting from X-autosomal translocation.
A case of partial trisomy 17 with partial monosomy X resulting from a maternal X-autosomal translocation t(X;17)(q13;q21) is presented. Three previously reported cases are reviewed and the phenotypic features of trisomy 17 are discussed.
D002675:Child, Preschool; D002871:Chromosome Banding; D002902:Chromosomes, Human, 16-18; D000013:Congenital Abnormalities / Q000235:genetics; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014314:Trisomy; D014960:X Chromosome