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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.

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.

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  • Authors+Show Affiliations

    ,

    Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

    ,

    Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

    ,

    Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

    ,

    Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

    ,

    Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

    Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

    Source

    MeSH

    Abnormalities, Multiple
    Chromosome Disorders
    Chromosome Duplication
    Chromosomes, Human, Pair 19
    Comparative Genomic Hybridization
    Humans
    In Situ Hybridization, Fluorescence
    Intellectual Disability
    Karyotyping
    Microcephaly
    Syndrome

    Pub Type(s)

    Case Reports
    Journal Article
    Research Support, Non-U.S. Gov't
    Review

    Language

    eng

    PubMed ID

    25858326

    Citation

    Orellana, Carmen, et al. "Pure Duplication of 19p13.3 in Three Members of a Family With Intellectual Disability and Literature Review. Definition of a New Microduplication Syndrome." American Journal of Medical Genetics. Part A, vol. 167, no. 7, 2015, pp. 1614-20.
    Orellana C, Roselló M, Monfort S, et al. Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome. Am J Med Genet A. 2015;167(7):1614-20.
    Orellana, C., Roselló, M., Monfort, S., Mayo, S., Oltra, S., & Martínez, F. (2015). Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome. American Journal of Medical Genetics. Part A, 167(7), pp. 1614-20. doi:10.1002/ajmg.a.37046.
    Orellana C, et al. Pure Duplication of 19p13.3 in Three Members of a Family With Intellectual Disability and Literature Review. Definition of a New Microduplication Syndrome. Am J Med Genet A. 2015;167(7):1614-20. PubMed PMID: 25858326.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome. AU - Orellana,Carmen, AU - Roselló,Mónica, AU - Monfort,Sandra, AU - Mayo,Sonia, AU - Oltra,Silvestre, AU - Martínez,Francisco, Y1 - 2015/04/09/ PY - 2014/06/29/received PY - 2015/02/16/accepted PY - 2015/4/11/entrez PY - 2015/4/11/pubmed PY - 2016/3/18/medline KW - insertional translocation KW - intellectual disability KW - microcephaly KW - microduplication syndrome SP - 1614 EP - 20 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 167 IS - 7 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/25858326/Pure_duplication_of_19p13_3_in_three_members_of_a_family_with_intellectual_disability_and_literature_review__Definition_of_a_new_microduplication_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.37046 DB - PRIME DP - Unbound Medicine ER -