[Infant hypotonia, obesity, hypogenitalism and oligophrenia--new viewpoints on the etiology and symptoms of Prader-Willi syndrome].
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.
D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D009765:Obesity / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic
Säuglingshypotonie, Adipositas, Hypogenitalismus und Oligophrenie--neue Gesichtspunkte zur Atiologie und Symptomatik des Prader-Willi-Syndroms.