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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Poss, AF; Goldenberg, PC; Rehder, CW; Kearney, HM; Melvin, EC; Koeberl, DD; McDonald, MT

Published Date

  • October 1, 2006

Published In

Volume / Issue

  • 140 / 19

Start / End Page

  • 2050 - 2056

PubMed ID

  • 16906557

International Standard Serial Number (ISSN)

  • 1552-4825

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.31417

Language

  • eng

Conference Location

  • United States