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    A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

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    URI
    http://hdl.handle.net/11287/594012
    Author
    Iype, T.
    Alakbarzade, Vafa
    Iype, M.
    Singh, R.
    Sreekantan-Nair, Ajith
    Chioza, Barry A.
    Mohapatra, T. M.
    Baple, E. L.
    Patton, M. A.
    Warner, T. T.
    Proukakis, C.
    Kulkarni, A.
    Crosby, Andrew H.
    Date
    2015-11-10
    Journal
    BMC medical genetics
    Type
    Journal Article
    Publisher
    BMC Med Genet
    DOI
    10.1186/s12881-015-0251-5
    Metadata
    Show full item record
    Abstract
    BACKGROUND: The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onset of growth retardation, while gains of the same chromosomal region result in a more variable degree of intellectual deficit and dysmorphism. Similarly the phenotype of individuals with terminal deletions of distal chromosome 3p (3p deletion syndrome) varies from mild to severe intellectual deficit, micro- and trigonocephaly, and a distinct facial appearance. METHODS AND RESULTS: We investigated a large Indian five-generation pedigree with ten affected family members in which chromosomal microarray and fluorescence in situ hybridization analyses disclosed a complex rearrangement involving chromosomal subregions 4p16.1 and 3p26.3 resulting in a 4p16.1 deletion and 3p26.3 microduplication in three individuals, and a 4p16.1 duplication and 3p26.3 microdeletion in seven individuals. A typical clinical presentation of WHS was observed in all three cases with 4p16.1 deletion and 3p26.3 microduplication. Individuals with a 4p16.1 duplication and 3p26.3 microdeletion demonstrated a range of clinical features including typical 3p microdeletion or 4p partial trisomy syndrome to more severe neurodevelopmental delay with distinct dysmorphic features. CONCLUSION: We present the largest pedigree with complex t(4p;3p) chromosomal rearrangements and diverse clinical outcomes including Wolf Hirschorn-, 3p deletion-, and 4p duplication syndrome amongst affected individuals.
    Citation
    BMC Med Genet. 2015 Nov 10;16(1):104.
    Publisher URL
    http://www.biomedcentral.com/1471-2350/16/104
    Note
    This article is available via Open Access. Please click on the 'Additional Link' above to access the full-text.
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