title: Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype.
abstract: In this report we describe a 3-year-old boy with partial trisomy of the short arm of chromosome 2 due to a de novo tandem duplication 2(dup(2)(p13----p21)). In addition to severe growth retardation and moderate psychomotor delay he presented a dysmorphic syndrome compatible with the clinical diagnostic of Aarskog syndrome.
authors.affiliation: Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: A
authors.initials: A
authors.lastname: Kleczkowska
authors.forename: H
authors.initials: H
authors.lastname: Kenis
authors.forename: P
authors.initials: P
authors.lastname: Decock
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2 / Q000648:ultrastructure*; D003456:Cryptorchidism / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D017880:Limb Deformities, Congenital; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014314:Trisomy