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

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, skel...

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Autores principales: Ramineni, Anand K., Burgess, Trent, Cruickshanks, Penny, Coman, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389485/
https://www.ncbi.nlm.nih.gov/pubmed/30847195
http://dx.doi.org/10.1002/ccr3.1970
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author Ramineni, Anand K.
Burgess, Trent
Cruickshanks, Penny
Coman, David
author_facet Ramineni, Anand K.
Burgess, Trent
Cruickshanks, Penny
Coman, David
author_sort Ramineni, Anand K.
collection PubMed
description 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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spelling pubmed-63894852019-03-07 A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature Ramineni, Anand K. Burgess, Trent Cruickshanks, Penny Coman, David Clin Case Rep Case Reports 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). John Wiley and Sons Inc. 2019-01-07 /pmc/articles/PMC6389485/ /pubmed/30847195 http://dx.doi.org/10.1002/ccr3.1970 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Ramineni, Anand K.
Burgess, Trent
Cruickshanks, Penny
Coman, David
A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature
title A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature
title_full A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature
title_fullStr A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature
title_full_unstemmed A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature
title_short A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature
title_sort novel familial 9q31.2q32 microdeletion: muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389485/
https://www.ncbi.nlm.nih.gov/pubmed/30847195
http://dx.doi.org/10.1002/ccr3.1970
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