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

  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},
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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