A novel 800kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

Siddharth Banka, Gregory J. Fitzgibbon, Lorraine Gaunt, Wendy J. Rankin, Jill Clayton-Smith

    Research output: Contribution to journalArticlepeer-review

    Abstract

    The phenotype of 15q13.3 microdeletion is variable and can be non-penetrant. Recently, "second-hit hypothesis" has been proposed as a possible explanation for some variability in recurrent microdeletion syndromes. We present a family with a 1.9Mb 15q13.3 deletion and a novel 800kb 16q22.1duplication. We show that the 16q22.1 duplication may be a phenotypic modifier in this family and likely results in epilepsy and learning difficulties. We state the possible genes in this region that may be important in neurological development and function. © 2011 Wiley-Liss, Inc.
    Original languageEnglish
    Pages (from-to)1453-1457
    Number of pages4
    JournalAmerican Journal of Medical Genetics, Part A
    Volume155
    Issue number6
    DOIs
    Publication statusPublished - Jun 2011

    Keywords

    • 15q13 deletion
    • 16q22 duplication
    • Epilepsy
    • Learning difficulties
    • Obesity
    • Second-hit hypothesis
    • Short toes
    • SNTB2
    • Tapering fingers
    • WWP2

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