Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome

Congenit Anom (Kyoto). 2014 Nov;54(4):225-7. doi: 10.1111/cga.12065.

Abstract

To reveal the relation between intellectual disability and the deleted intervals in Williams syndrome, we performed an array comparative genomic hybridization analysis and standardized developmental testing for 11 patients diagnosed as having Williams syndrome based on fluorescent in situ hybridization testing. One patient had a large 4.2-Mb deletion spanning distally beyond the common 1.5-Mb intervals observed in 10/11 patients. We formulated a linear equation describing the developmental age of the 10 patients with the common deletion; the developmental age of the patient with the 4.2-Mb deletion was significantly below the expectation (developmental age = 0.51 × chronological age). The large deletion may account for the severe intellectual disability; therefore, the use of array comparative genomic hybridization may provide practical information regarding individuals with Williams syndrome.

Keywords: Williams syndrome; array comparative genomic hybridization; atypical deletion; severe intellectual disability.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Comparative Genomic Hybridization / methods*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Phenotype
  • Williams Syndrome / diagnosis
  • Williams Syndrome / genetics*
  • Williams Syndrome / pathology