Distinct dysmorphic syndrome in a child with inverted distal 5q duplication.
In the present paper we report a moderately mentally retarded 3 1/2-year-old girl with distal inverted 5q duplication (karyotype 46,XX,inv dup(5)(pter----q35.3::q35.3----q32::q35.3----qter). A distinct dysmorphic syndrome was present corresponding to the socalled "B-type" phenotype in 5q duplications, due to a duplication of band 5q33.
D002675:Child, Preschool; D007446:Chromosome Inversion; D002895:Chromosomes, Human, Pair 5; D005146:Facial Asymmetry / Q000151:congenital* / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*