Rare copy number variants implicated in posterior urethral valves.

  title={Rare copy number variants implicated in posterior urethral valves.},
  author={Nansi S. Boghossian and Robert J Sicko and Denise M Kay and Shannon L Rigler and Michele Caggana and Michael Y Tsai and Edwina H Yeung and Nathan Pankratz and Benjamin R. Cole and Charlotte M. Druschel and Paul A Romitti and Marilyn L Browne and Ruzong Fan and Aiyi Liu and Lawrence C. Brody and James L. Mills},
  journal={American journal of medical genetics. Part A},
  volume={170 3},
The cause of posterior urethral valves (PUV) is unknown, but genetic factors are suspected given their familial occurrence. We examined cases of isolated PUV to identify novel copy number variants (CNVs). We identified 56 cases of isolated PUV from all live-births in New York State (1998-2005). Samples were genotyped using Illumina HumanOmni2.5 microarrays. Autosomal and sex-linked CNVs were identified using PennCNV and cnvPartition software. CNVs were prioritized for follow-up if they were… CONTINUE READING
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