Clinical experience with array CGH: case presentations from nine months of practice

Am J Med Genet A. 2006 Oct 1;140(19):2050-6. doi: 10.1002/ajmg.a.31417.


A total of 124 individuals were tested in the initial 9 months that array CGH technology was offered to clinical genetics patients. In 11 of these patients array CGH identified a previously unsuspected diagnosis. A suspected diagnosis was confirmed in three patients. A single case in this series proved to be a polymorphic copy number variant. This paper describes five of the patients with previously unsuspected diagnoses in detail. We suggest that array CGH is an improved tool ready for routine use in clinical genetics.

Publication types

  • Case Reports
  • Evaluation Study

MeSH terms

  • Child
  • Child, Preschool
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Female
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics
  • Genetics, Medical / methods
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Male
  • Oligonucleotide Array Sequence Analysis / methods*
  • Sequence Analysis, DNA / methods