Congenital Arthrogryposis : An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?
Joint Authors
Fairbrother, L. C.
Butler, Merlin G.
Usrey, K. M.
Williams, C. A.
Dasouki, Majed
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-02-12
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
The proximal 15q11–q13 region contains 5 breakpoints (BP1–BP5).
The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes.
The genes in this region are known to play a role in central nervous system development and/or function.
Microdeletions within the 15q11.2 BP1-BP2 region have been reported in patients with neurological dysfunction, developmental delays, behavioral problems, and dysmorphic features.
We report two unrelated subjects with the 15q11.2 BP1-BP2 microdeletion and presenting with congenital arthrogryposis, a feature which has not been previously reported as part of this newly recognized microdeletion syndrome.
While arthrogryposis seen in these two subjects may be coincidental, we propose that congenital arthrogryposis may result from neurological dysfunction and involvement of the microdeletion of the 15q11.2 BP1-BP2 region, further expanding the phenotype of this microdeletion syndrome.
We encourage others to report patients with this chromosome microdeletion and neurological findings to further characterize the clinical phenotype.
American Psychological Association (APA)
Usrey, K. M.& Williams, C. A.& Dasouki, Majed& Fairbrother, L. C.& Butler, Merlin G.. 2014. Congenital Arthrogryposis : An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?. Case Reports in Genetics،Vol. 2014, no. 2014, pp.1-3.
https://search.emarefa.net/detail/BIM-447781
Modern Language Association (MLA)
Usrey, K. M.…[et al.]. Congenital Arthrogryposis : An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?. Case Reports in Genetics No. 2014 (2014), pp.1-3.
https://search.emarefa.net/detail/BIM-447781
American Medical Association (AMA)
Usrey, K. M.& Williams, C. A.& Dasouki, Majed& Fairbrother, L. C.& Butler, Merlin G.. Congenital Arthrogryposis : An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?. Case Reports in Genetics. 2014. Vol. 2014, no. 2014, pp.1-3.
https://search.emarefa.net/detail/BIM-447781
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-447781