Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?

@inproceedings{Usrey2014CongenitalAA,
  title={Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?},
  author={Kelly M Usrey and Charles A. Williams and Majed J. Dasouki and Laura C Fairbrother and Merlin G. Butler},
  booktitle={Case reports in genetics},
  year={2014}
}
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… CONTINUE READING

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Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics • 2016
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The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review

International journal of molecular sciences • 2015
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References

Publications referenced by this paper.
Showing 1-10 of 35 references

Expanding the BP 1 - BP 2 15 q 11 . 2 microdeletion phenotype : tracheoesophageal fistula and congenital cataracts

A. E. VanHeest M. Bamshad, andD. Pleasure
Case Reports in Genetics • 2013

and T

D. Wong, S. M. Johnson, D. Young, L. Iwamoto, S. Sood
P. Slavin, “Expanding the BP1-BP2 15q11.2 microdeletion phenotype: tracheoesophageal fistula and congenital cataracts,” Case Reports in Genetics, vol. 2013, Article ID 801094, 3 pages • 2013

F

R. D. Burnside, R. Pasion
M. Mikhail et al., “Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay,” Human Genetics, vol. 130, no. 4, pp. 517–528 • 2011
View 2 Excerpts

Microdele - tion / microduplication of proximal 15 q 11 . 2 between BP 1 and BP 2 : a susceptibility region for neurological dysfunction including developmental and language delay

D. Wong, S. M. Johnson, +3 authors T. P. Slavin
Human Genetics • 2011

and A

C. A. Williams, D. J. Driscoll
I. Dagli, “Clinical and genetic aspects of Angelman syndrome,” Genetics in Medicine, vol. 12, no. 7, pp. 385–395 • 2010
View 1 Excerpt

C

M. Doornbos, B. Sikkema-Raddatz
A. L. Ruijvenkamp et al., “Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances,” European Journal of Medical Genetics, vol. 52, no. 2-3, pp. 108–115 • 2009
View 2 Excerpts

N

G. Kirov, D. Grozeva
Norton et al., “Support for the involvement of large copy number variants in the pathogenesis of schizophrenia,”Human Molecular Genetics, vol. 18, no. 8, pp. 1497–1503 • 2009
View 1 Excerpt

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