• disorders
  • Even though these syndromes share some overlapping features, genotype-phenotype correlations are well established for each of these, supporting the idea that they represent clinically distinct disorders. (els.net)
  • findings
  • We present here the phenotypic and genomic findings in a family with an affected female proband who carries an interstitial deletion within the 6p25.1p24.3 region, her phenotypically unaffected brother with a reciprocal interstitial duplication of the same region, and their mosaic carrier mother who carries three cell populations with the deletion, the duplication and normal cells, respectively. (springer.com)
  • duplication
  • While the deletion causes phenotypes reportedly associated with the chromosome 6pter-p24 deletion syndrome, the reciprocal duplication may have no or minimal phenotypic effect, suggesting possible triploinsensitivity of the same region. (springer.com)
  • features
  • High-resolution ultrasound in pregnant women with a family history of Noonan's may detect features suggestive of the syndrome. (lymphedemapeople.com)
  • When the medical world first learned about Prader-Willi syndrome in 1956, doctors had no idea what caused people to have this collection of features and problems that we now know as PWS. (lymphedemapeople.com)
  • An approximately 2.1 Mb terminal region has been reported to be responsible for some major features of the syndrome. (springer.com)
  • possible
  • Hunter A, Pinsky L. An evaluation of the possible association of malignant hyperpyrexia with the Noonan syndrome using serum creatine phosphokinase levels. (mhaus.org)
  • effect
  • To more fully assess the effect of balloon dilation of PPS associated with Williams syndrome, we reviewed our experience with this patient group. (ahajournals.org)
  • condition
  • Though an early description of the syndrome is credited to a Russian medical student, Koblinsky, at the Russian/Estonian University at Dorpat, the condition is named after an American cardiologist, Jacquline A. Noonan. (lymphedemapeople.com)