A gene dosage map of Chromosome 18

A map with clinical utility

Jannine D. Cody, Erika M. Carter, Courtney Sebold, Patricia L. Heard, Daniel Hale

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

PURPOSE: Microarray technology has revolutionized the field of clinical genetics with the ability to detect very small copy number changes. However, challenges remain in linking genotype with phenotype. Our goal is to enable a clinical geneticist to align the molecular karyotype information from an individual patient with the annotated genomic content, so as to provide a clinical prognosis. METHODS: We have combined data regarding copy number variations, microdeletion syndromes, and classical chromosome abnormalities, with the sparse but growing knowledge about the biological role of specific genes to create a genomic map of Chromosome 18 with clinical utility. RESULTS: We have created a draft model of such a map, drawing from our long-standing interest in and data regarding the abnormalities of Chromosome 18. CONCLUSION: We have taken the first step toward creating a genomic map that can be used by the clinician in counseling and directing preventive or symptomatic care of individuals with Chromosome 18 abnormalities.

Original languageEnglish (US)
Pages (from-to)778-782
Number of pages5
JournalGenetics in Medicine
Volume11
Issue number11
DOIs
StatePublished - Nov 1 2009

Fingerprint

Chromosomes, Human, Pair 18
Gene Dosage
Chromosome Aberrations
Aptitude
Karyotype
Counseling
Genotype
Technology
Phenotype
Genes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Cody, Jannine D. ; Carter, Erika M. ; Sebold, Courtney ; Heard, Patricia L. ; Hale, Daniel. / A gene dosage map of Chromosome 18 : A map with clinical utility. In: Genetics in Medicine. 2009 ; Vol. 11, No. 11. pp. 778-782.
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A gene dosage map of Chromosome 18 : A map with clinical utility. / Cody, Jannine D.; Carter, Erika M.; Sebold, Courtney; Heard, Patricia L.; Hale, Daniel.

In: Genetics in Medicine, Vol. 11, No. 11, 01.11.2009, p. 778-782.

Research output: Contribution to journalArticle

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