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

Ramineni Anand K. | Zendy; Burgess Trent | Zendy; Cruickshanks Penny | Zendy; Coman David | Zendy

Open Access

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

Author(s) -

Ramineni Anand K.,

Burgess Trent,

Cruickshanks Penny,

Coman David

Publication year - 2019

Publication title -

clinical case reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.21

H-Index - 9

ISSN - 2050-0904

DOI - 10.1002/ccr3.1970

Subject(s) - medicine , short stature , sensorineural hearing loss , facial dysmorphism , muscle cramp , growth retardation , hearing loss , pediatrics , somnolence , audiology , pregnancy , adverse effect , biochemistry , chemistry , genetics , biology , gene , phenotype

Key Clinical Message 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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