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

Hum Genet. 1995 Dec;96(6):638-43. doi: 10.1007/BF00210291.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Anthropometry
  • Birth Weight
  • Cesarean Section
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6*
  • Female
  • Genotype
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Maternal Age
  • Paternal Age
  • Phenotype
  • Polymorphism, Restriction Fragment Length*
  • Prader-Willi Syndrome / genetics*
  • Pregnancy
  • Pseudogenes
  • Reference Values
  • Sex Characteristics