Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.

@article{Rosenfeld2011DeletionsAD,
  title={Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.},
  author={Jill A Rosenfeld and Joanne Milisa Drautz and Carol L. Clericuzio and Tom Cushing and S Raskin and Judith Marie Martin and Raymond C. Tervo and Jose A. Pitarque and Dorota M. Nowak and Justyna A. Karolak and Allen N. Lamb and Roger A. Schultz and Blake C. Ballif and Bassem A. Bejjani and Marzena Gajecka and Lisa Gail Shaffer},
  journal={American journal of medical genetics. Part A},
  year={2011},
  volume={155A 8},
  pages={1906-16}
}
Although copy number changes of 5q31 have been rarely reported, deletions have been associated with some common characteristics, such as short stature, failure to thrive, developmental delay (DD)/intellectual disability (ID), club feet, dislocated hips, and dysmorphic features. We report on three individuals with deletions and two individuals with duplications at 5q31, ranging from 3.6 Mb to 8.1 Mb and 830 kb to 3.4 Mb in size, respectively. All five copy number changes are apparently de novo… CONTINUE READING
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References

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A constitutional 5q23 deletion.

View 4 Excerpts
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Constitutional del(5)(q23.3q31.1).

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WNT pathways and upper limb anomalies.

The Journal of hand surgery, European volume • 2011

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