Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

  title={Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.},
  author={Caroline E. Browne and Nicholas Robert Dennis and E. Paddy Maher and F W Long and James Christopher Nicholson and Julie Sillibourne and John C K Barber},
  journal={American journal of human genetics},
  volume={61 6},
We present the cytogenetic, molecular cytogenetic, and molecular genetic results on 20 unrelated patients with an interstitial duplication of the proximal long arm of chromosome 15. Multiple probes showed that the Prader-Willi/Angelman critical region (PWACR) was included in the duplication in 4/20 patients, each ascertained with developmental delay. The duplication was also found in two affected but not in three unaffected sibs of one of these patients. All four probands had inherited their… CONTINUE READING
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