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Pure duplication of 19p13.3.
Am J Med Genet A 2013; 161A(9):2300-4AJ

Abstract

Chromosomal abnormalities involving 19p13.3 have rarely been described in the published literature. Here, we report on a girl with a pure terminal duplication of 6.1 Mb on 19p13.3, caused by an unbalanced translocation der(19)t(10;19)(qter;p13.3)dn. Her phenotype included severe psychomotor developmental delay, skeletal malformations, and a distinctive facial appearance, similar to that of a patient previously reported by Lybaek et al. [Lybaek et al. (2009); Eur J Hum Genet 17:904-910]. These results suggest that a duplication of >3 Mb at the terminus of 19p13.3 might represent a distinct chromosomal syndrome.

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    Authors+Show Affiliations

    Ishikawa A
    Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
    Enomoto K
    No affiliation info available
    Tominaga M
    No affiliation info available
    Saito T
    No affiliation info available
    Nagai J
    No affiliation info available
    Furuya N
    No affiliation info available
    Ueno K
    No affiliation info available
    Ueda H
    No affiliation info available
    Masuno M
    No affiliation info available
    Kurosawa K
    No affiliation info available

    MeSH

    Abnormalities, MultipleChild, PreschoolChromosome DuplicationChromosome MappingChromosomes, Human, Pair 19Comparative Genomic HybridizationFaciesFemaleGenetic Association StudiesHumansIn Situ Hybridization, FluorescencePhenotype

    Pub Type(s)

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

    Language

    eng

    PubMed ID

    23897601

    Citation

    Ishikawa, Aki, et al. "Pure Duplication of 19p13.3." American Journal of Medical Genetics. Part A, vol. 161A, no. 9, 2013, pp. 2300-4.
    Ishikawa A, Enomoto K, Tominaga M, et al. Pure duplication of 19p13.3. Am J Med Genet A. 2013;161A(9):2300-4.
    Ishikawa, A., Enomoto, K., Tominaga, M., Saito, T., Nagai, J., Furuya, N., ... Kurosawa, K. (2013). Pure duplication of 19p13.3. American Journal of Medical Genetics. Part A, 161A(9), pp. 2300-4. doi:10.1002/ajmg.a.36041.
    Ishikawa A, et al. Pure Duplication of 19p13.3. Am J Med Genet A. 2013;161A(9):2300-4. PubMed PMID: 23897601.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Pure duplication of 19p13.3. AU - Ishikawa,Aki, AU - Enomoto,Keisuke, AU - Tominaga,Makiko, AU - Saito,Toshiyuki, AU - Nagai,Jun-ichi, AU - Furuya,Noritaka, AU - Ueno,Kentaro, AU - Ueda,Hideaki, AU - Masuno,Mitsuo, AU - Kurosawa,Kenji, Y1 - 2013/07/29/ PY - 2012/06/10/received PY - 2013/04/15/accepted PY - 2013/7/31/entrez PY - 2013/7/31/pubmed PY - 2014/3/29/medline KW - 19p13.3 duplication KW - array CGH KW - developmental delay KW - subtelomere SP - 2300 EP - 4 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 161A IS - 9 N2 - Chromosomal abnormalities involving 19p13.3 have rarely been described in the published literature. Here, we report on a girl with a pure terminal duplication of 6.1 Mb on 19p13.3, caused by an unbalanced translocation der(19)t(10;19)(qter;p13.3)dn. Her phenotype included severe psychomotor developmental delay, skeletal malformations, and a distinctive facial appearance, similar to that of a patient previously reported by Lybaek et al. [Lybaek et al. (2009); Eur J Hum Genet 17:904-910]. These results suggest that a duplication of >3 Mb at the terminus of 19p13.3 might represent a distinct chromosomal syndrome. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/23897601/Pure_duplication_of_19p13_3_ L2 - https://doi.org/10.1002/ajmg.a.36041 DB - PRIME DP - Unbound Medicine ER -