A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature
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Burgess, Trent
Cruickshanks, Penny
Coman, David
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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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Clinical Case Reports
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7
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2
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© 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
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Biochemistry and cell biology not elsewhere classified
Science & Technology
Life Sciences & Biomedicine
Medicine, General & Internal
General & Internal Medicine
9q microdeletion
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Ramineni, AK; Burgess, T; Cruickshanks, P; Coman, D, A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature, Clinical Case Reports, 2019, 7 (2), pp. 304-310