Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype.
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.
Fryns
J P
JP
Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
Kleczkowska
A
A
Kenis
H
H
Decock
P
P
Van den Berghe
H
H
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