A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature

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    Author
    Ramineni, AK; Burgess, T; Cruickshanks, P; Coman, D
    Date
    2019-02-01
    Source Title
    Clinical Case Reports
    Publisher
    WILEY
    University of Melbourne Author/s
    Burgess, Trent
    Affiliation
    Paediatrics (RCH)
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Ramineni, A. K., Burgess, T., Cruickshanks, P. & Coman, D. (2019). A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature. CLINICAL CASE REPORTS, 7 (2), pp.304-310. https://doi.org/10.1002/ccr3.1970.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/253742
    DOI
    10.1002/ccr3.1970
    Abstract
    We report a novel 9q31.2q32 (chr9: 109195179-113974353, hg 18) microdeletion characterized by fatigue, muscle cramps, short stature, delayed puberty, sensorineural hearing loss, and mild developmental delay. Overlapping microdeletions reported in this region also demonstrate facial dysmorphism, skeletal anomalies, cleft palate, and cardiac valvular abnormalities. In comparing these cases, we suggest critical region of chr9: 109711873-113407621 (hg 18).

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