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Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.

Abstract

Chromosome 18 abnormalities rank among the most common autosomal anomalies with 18q being the most frequently affected. A deletion of 18q has been attributed to microcephaly, mental retardation, short stature, facial dysmorphism, myelination disorders, limb and genitourinary malformations and congenital aural atresia. On the other hand, duplications of 18q have been associated with the phenotype of Edwards syndrome. Critical chromosomal regions for both phenotypes are contentious. In this report, we describe the first case of an 11-year old male with a combined interstitial duplication 18q22.1, triplication 18q22.1q22.2 and terminal deletion 18q22.2q23 with phenotypic features of isolated 18q deletion syndrome and absence of phenotypic features characteristic of Edwards syndrome despite duplication of the suggested critical region. This report allows for reevaluation of proposed critical intervals for the phenotypes in deletion 18q syndrome and Edwards syndrome.

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  • Authors+Show Affiliations

    ,

    Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

    , , , ,

    Source

    Gene 523:1 2013 Jul 01 pg 92-8

    MeSH

    Abnormalities, Multiple
    Cells, Cultured
    Child
    Chromosome Deletion
    Chromosome Duplication
    Chromosome Mapping
    Chromosomes, Human, Pair 18
    Comparative Genomic Hybridization
    Humans
    Intellectual Disability
    Karyotyping
    Leukocytes, Mononuclear
    Male
    Microcephaly
    Phenotype

    Pub Type(s)

    Journal Article

    Language

    eng

    PubMed ID

    23566840

    Citation

    Nguyen-Minh, Sylvie, et al. "Combined Deletion 18q22.2 and Duplication/triplication 18q22.1 Causes Microcephaly, Mental Retardation and Leukencephalopathy." Gene, vol. 523, no. 1, 2013, pp. 92-8.
    Nguyen-Minh S, Drossel K, Horn D, et al. Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy. Gene. 2013;523(1):92-8.
    Nguyen-Minh, S., Drossel, K., Horn, D., Rost, I., Spors, B., & Kaindl, A. M. (2013). Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy. Gene, 523(1), pp. 92-8. doi:10.1016/j.gene.2013.03.078.
    Nguyen-Minh S, et al. Combined Deletion 18q22.2 and Duplication/triplication 18q22.1 Causes Microcephaly, Mental Retardation and Leukencephalopathy. Gene. 2013 Jul 1;523(1):92-8. PubMed PMID: 23566840.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy. AU - Nguyen-Minh,Sylvie, AU - Drossel,Katrin, AU - Horn,Denise, AU - Rost,Imma, AU - Spors,Birgit, AU - Kaindl,Angela M, Y1 - 2013/04/05/ PY - 2012/11/15/received PY - 2013/02/05/revised PY - 2013/03/15/accepted PY - 2013/4/10/entrez PY - 2013/4/10/pubmed PY - 2013/7/13/medline SP - 92 EP - 8 JF - Gene JO - Gene VL - 523 IS - 1 N2 - Chromosome 18 abnormalities rank among the most common autosomal anomalies with 18q being the most frequently affected. A deletion of 18q has been attributed to microcephaly, mental retardation, short stature, facial dysmorphism, myelination disorders, limb and genitourinary malformations and congenital aural atresia. On the other hand, duplications of 18q have been associated with the phenotype of Edwards syndrome. Critical chromosomal regions for both phenotypes are contentious. In this report, we describe the first case of an 11-year old male with a combined interstitial duplication 18q22.1, triplication 18q22.1q22.2 and terminal deletion 18q22.2q23 with phenotypic features of isolated 18q deletion syndrome and absence of phenotypic features characteristic of Edwards syndrome despite duplication of the suggested critical region. This report allows for reevaluation of proposed critical intervals for the phenotypes in deletion 18q syndrome and Edwards syndrome. SN - 1879-0038 UR - https://www.unboundmedicine.com/medline/citation/23566840/Combined_deletion_18q22_2_and_duplication/triplication_18q22_1_causes_microcephaly_mental_retardation_and_leukencephalopathy_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0378-1119(13)00347-8 DB - PRIME DP - Unbound Medicine ER -