Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion

J Med Genet. 2003 Jul;40(7):526-30. doi: 10.1136/jmg.40.7.526.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7 / genetics*
  • Cognition Disorders / complications*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Gene Frequency
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Mental Disorders / complications*
  • Microtubule-Associated Proteins / genetics
  • Nerve Tissue Proteins / genetics
  • Neuropsychological Tests
  • Pedigree
  • Polymorphism, Genetic
  • Psychiatric Status Rating Scales
  • Williams Syndrome / complications
  • Williams Syndrome / genetics*
  • Williams Syndrome / psychology

Substances

  • Microtubule-Associated Proteins
  • Nerve Tissue Proteins
  • cytoplasmic linker protein 115
  • DNA

Associated data

  • OMIM/194050