Clinical experience with array CGH: case presentations from nine months of practice.
Publication
, Journal Article
Poss, AF; Goldenberg, PC; Rehder, CW; Kearney, HM; Melvin, EC; Koeberl, DD; McDonald, MT
Published in: Am J Med Genet A
October 1, 2006
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.
Duke Scholars
Published In
Am J Med Genet A
DOI
ISSN
1552-4825
Publication Date
October 1, 2006
Volume
140
Issue
19
Start / End Page
2050 / 2056
Location
United States
Related Subject Headings
- Sequence Analysis, DNA
- Oligonucleotide Array Sequence Analysis
- Male
- Karyotyping
- Infant, Newborn
- Infant
- In Situ Hybridization, Fluorescence
- Humans
- Genetics, Medical
- Genetic Diseases, Inborn
Citation
APA
Chicago
ICMJE
MLA
NLM
Poss, A. F., Goldenberg, P. C., Rehder, C. W., Kearney, H. M., Melvin, E. C., Koeberl, D. D., & McDonald, M. T. (2006). Clinical experience with array CGH: case presentations from nine months of practice. Am J Med Genet A, 140(19), 2050–2056. https://doi.org/10.1002/ajmg.a.31417
Poss, Alexis F., Paula C. Goldenberg, Catherine W. Rehder, Hutton M. Kearney, Elizabeth C. Melvin, Dwight D. Koeberl, and Marie T. McDonald. “Clinical experience with array CGH: case presentations from nine months of practice.” Am J Med Genet A 140, no. 19 (October 1, 2006): 2050–56. https://doi.org/10.1002/ajmg.a.31417.
Poss AF, Goldenberg PC, Rehder CW, Kearney HM, Melvin EC, Koeberl DD, et al. Clinical experience with array CGH: case presentations from nine months of practice. Am J Med Genet A. 2006 Oct 1;140(19):2050–6.
Poss, Alexis F., et al. “Clinical experience with array CGH: case presentations from nine months of practice.” Am J Med Genet A, vol. 140, no. 19, Oct. 2006, pp. 2050–56. Pubmed, doi:10.1002/ajmg.a.31417.
Poss AF, Goldenberg PC, Rehder CW, Kearney HM, Melvin EC, Koeberl DD, McDonald MT. Clinical experience with array CGH: case presentations from nine months of practice. Am J Med Genet A. 2006 Oct 1;140(19):2050–2056.
Published In
Am J Med Genet A
DOI
ISSN
1552-4825
Publication Date
October 1, 2006
Volume
140
Issue
19
Start / End Page
2050 / 2056
Location
United States
Related Subject Headings
- Sequence Analysis, DNA
- Oligonucleotide Array Sequence Analysis
- Male
- Karyotyping
- Infant, Newborn
- Infant
- In Situ Hybridization, Fluorescence
- Humans
- Genetics, Medical
- Genetic Diseases, Inborn