Please use this identifier to cite or link to this item:
https://dora.health.qld.gov.au/qldresearchjspui/handle/1/3837| Title: | A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature | Authors: | Ramineni, A. K. Coman, D. Cruickshanks, P. Burgess, T. |
Issue Date: | 2019 | Source: | 7, (2), 2019, p. 304-310 | Pages: | 304-310 | Journal: | Clinical Case Reports | 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).L6258216812019-01-11 | DOI: | 10.1002/ccr3.1970 | Resources: | https://www.embase.com/search/results?subaction=viewrecord&id=L625821681&from=exporthttp://dx.doi.org/10.1002/ccr3.1970 | | Keywords: | aged;anxiety;article;case report;child;chromosome 9;chromosome analysis;chromosome deletion;clinical article;daytime somnolence;delayed puberty;DNA extraction;dyscalculia;dyslexia;fatigue;female;genetic analysis;genetic variability;growth rate;human;hypersomnia;interstitial chromosome deletion;male;motor development;muscle cramp;myalgia;myasthenia;neurologic examination;perception deafness;phenotype;priority journal;school child;short stature;somnolence;strabismus;ultrasound;X ray;adolescent;9q31 2q32 microdeletion;testosterone;creatine kinasemodafinil;adult | Type: | Article |
| Appears in Sites: | Children's Health Queensland Publications |
Show full item record
Items in DORA are protected by copyright, with all rights reserved, unless otherwise indicated.