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  • Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus

    Author(s)
    Trivellin, Giampaolo
    Sharwood, Erin
    Hijazi, Hadia
    Carvalho, Claudia MB
    Yuan, Bo
    Tatton-Brown, Katrina
    Coman, David
    Lupski, James R
    Cotterill, Andrew M
    Lodish, Maya B
    Stratakis, Constantine A
    Griffith University Author(s)
    Coman, Dave J.
    Year published
    2018
    Metadata
    Show full item record
    Abstract
    We describe a 4-year-old boy with developmental delay who was found to carry by clinical grade (CG) molecular cytogenetics (MCs) a chromosome Xq26 microduplication. The report prompted a referral of the patient for possible X-linked acrogigantism (X-LAG), a well-defined condition (MIM300942) due to chromosomal microduplication of a nearby region. The patient was evaluated clinically and investigated for endocrine abnormalities related to X-LAG and not only did he not have acrogigantism, but his growth parameters and other hormones were all normal. We then performed high definition MCs and the duplication copy number variant ...
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    We describe a 4-year-old boy with developmental delay who was found to carry by clinical grade (CG) molecular cytogenetics (MCs) a chromosome Xq26 microduplication. The report prompted a referral of the patient for possible X-linked acrogigantism (X-LAG), a well-defined condition (MIM300942) due to chromosomal microduplication of a nearby region. The patient was evaluated clinically and investigated for endocrine abnormalities related to X-LAG and not only did he not have acrogigantism, but his growth parameters and other hormones were all normal. We then performed high definition MCs and the duplication copy number variant (CNV) was confirmed to precisely map outside the X-LAG critical region and definitely did not harbor the X-LAG candidate gene, GPR101. The patient’s phenotype resembled that of other patients with Xq26 CNVs. The case is instructive for the need for high definition MCs when CG MCs’ results are inconsistent with the patient’s phenotype. It is also useful for further
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    Journal Title
    Journal of the Endocrine Society
    Volume
    2
    Issue
    10
    DOI
    https://doi.org/10.1210/js.2018-00156
    Subject
    Biomedical and clinical sciences
    Publication URI
    http://hdl.handle.net/10072/385647
    Collection
    • Journal articles

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