Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.

  title={Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.},
  author={M. Tassabehji},
  journal={Human molecular genetics},
  volume={12 Spec No 2},
Many human chromosomal abnormality syndromes include specific cognitive and behavioural components. Children with Prader-Willi syndrome lack a paternally derived copy of the proximal long arm of chromosome 15, and eat uncontrollably; in Angelman syndrome lack of a maternal contribution of 15q11-q13 results in absence of speech, frequent smiling and episodes of paroxysmal laughter; deletions on 22q11 can be associated with obsessive behaviour and schizophrenia. The neurodevelopmental disorder… CONTINUE READING