Human Genetics

, Volume 96, Issue 6, pp 638–643 | Cite as

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome

  • Gabriele Gillessen-Kaesbach
  • Wendy Robinson
  • Dietmar Lohmann
  • Sabine Kaya-Westerloh
  • Eberhard Passarge
  • Bernhard Horsthemke
Original Investigation


A total of 167 patients with Prader-Willi syndrome (PWS) was studied at the clinical and molecular level. Diagnosis was confirmed by the PW71 methylation test. Quantitative Southern blot hybridizations with a probe for the small nuclear ribonucleoprotein N were performed to distinguish between patients with a deletion (116 patient or 69.5%) and patients without a deletion (51 patients or 30.5%). These two types of patients differed with respect to the presence of hypopigmentation, which was more frequent in patients with a deletion (52%) than in patients without (23%), and to average birth weight of females and males, which was lower in patients with a deletion than in patients without. Newborns with PWS had a lower birth weight and length at term, but normal head circumference in comparison with a control group. This finding aids the identification of the neonatal phenotype. In addition, our data confirm an increased maternal age in the non-deletion group.


Birth Weight Metabolic Disease Molecular Level Lower Birth Weight Southern Blot 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Gabriele Gillessen-Kaesbach
    • 1
  • Wendy Robinson
    • 2
  • Dietmar Lohmann
    • 1
  • Sabine Kaya-Westerloh
    • 1
  • Eberhard Passarge
    • 1
  • Bernhard Horsthemke
    • 1
  1. 1.Institut für Humangenetik, Universitatsklinikum EssenEssenGermany
  2. 2.Department of Medical GeneticsBritish Columbia's Children's HospitalVancouverCanada

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