title: A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.
abstract: We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stature, recurrent infections, hypotonia and facial features, such as hypertelorism, epicanthal folds, and a broad nasal bridge, were also described in patients with larger duplications overlapping the 12q24.21q24.23 region. The duplicated region contains 16 genes, of which several genes, such as thyroid hormone receptor associated protein 2, replication factor C5 and nitric oxide synthase 1, are expressed in the brain and/or are involved in embryogenesis. The current case shows that microduplications might be a more frequent cause of mental retardation and human malformation than previously appreciated.
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Department of Paediatrics, TweeSteden Hospital, Tilburg, The Netherlands.
authors.forename: Mariken
authors.initials: M
authors.lastname: Ruiter
authors.forename: David A
authors.initials: DA
authors.lastname: Koolen
authors.forename: Rolph
authors.initials: R
authors.lastname: Pfundt
authors.forename: Nicole
authors.initials: N
authors.lastname: de Leeuw
authors.forename: Harry M J
authors.initials: HMJ
authors.lastname: Klinkers
authors.forename: Erik A
authors.initials: EA
authors.lastname: Sistermans
authors.forename: Joris A
authors.initials: JA
authors.lastname: Veltman
authors.forename: Bert B A
authors.initials: BBA
authors.lastname: de Vries
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D003025:Clubfoot / Q000473:pathology; D003638:Deafness / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D009264:Nails, Malformed; D011596:Psychomotor Disorders / Q000473:pathology; D011782:Quadriplegia / Q000473:pathology; D013577:Syndrome