NDLI: Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.

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Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Orellana, Carmen Roselló, Mónica Monfort, Sandra Mayo, Sonia Oltra, Silvestre Martínez, Francisco
Description	Country affiliation: Spain Author Affiliation: Orellana C ( Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.); Roselló M ( Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.); Monfort S ( Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.); Mayo S ( Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.); Oltra S ( Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.); Martínez F ( Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.)
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.
File Format	HTM / HTML
ISSN	15524825
Issue Number	7
Volume Number	167
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2015-07-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Abnormalities, Multiple Genetics Chromosome Disorders Chromosome Duplication Chromosomes, Human, Pair 19 Intellectual Disability Microcephaly Comparative Genomic Hybridization Humans In Situ Hybridization, Fluorescence Karyotyping Syndrome Case Reports Journal Article Research Support, Non-u.s. Gov't Review
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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