title: Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.
abstract: This paper describes the presence of an interstitial pure duplication of 19p13.3 (4.95 Mb) in a patient with intellectual disability studied by array-CGH which was initially considered as a de novo alteration. The discovery of the same chromosomal alteration in a first-degree cousin of this patient led us to investigate the presence of insertional translocations, which were consequently found in three family generations. The same duplication was found in three intellectually disabled patients and among the translocation carrier family members a very high incidence of miscarriages are reported. A review of other published cases has allowed us to find three other patients with a similar pure duplication, all of them sharing some common clinical findings such as intrauterine growth retardation, microcephaly, motor and speech delay, moderate to severe intellectual disability, and dysmorphic features. These findings allow us to suggest the presence of a new microduplication syndrome in chromosomal region 19p13.3.
authors: Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
authors: Carmen
authors: C
authors: Orellana
authors: Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
authors: Mónica
authors: M
authors: Roselló
authors: Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
authors: Sandra
authors: S
authors: Monfort
authors: Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
authors: Sonia
authors: S
authors: Mayo
authors: Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
authors: Silvestre
authors: S
authors: Oltra
authors: Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
authors: Francisco
authors: F
authors: Martínez
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D025063:Chromosome Disorders / Q000235:genetics*; D058674:Chromosome Duplication / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome
keywords: insertional translocation; intellectual disability; microcephaly; microduplication syndrome