[Infant hypotonia, obesity, hypogenitalism and oligophrenia--new viewpoints on the etiology and symptoms of Prader-Willi syndrome]

Psychiatr Neurol Med Psychol (Leipz). 1985 May;37(5):255-61.
[Article in German]

Abstract

We present four cases of Prader-Willi syndrome. Two of them have an abnormality of a chromosome 15, the other both show different chromosomal abnormalities. Translocations or deletions were found recently in the bands 15q11/12 in about 60% of the cases of Prader-Willi syndrome. The consequences for diagnosis, symptomatology and genetic counselling of the syndrome are discussed.

Publication types

  • English Abstract

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Female
  • Humans
  • Hypogonadism / genetics
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Muscle Hypotonia / genetics
  • Obesity / genetics
  • Prader-Willi Syndrome / diagnosis
  • Prader-Willi Syndrome / genetics*
  • Translocation, Genetic