A gene dosage map of Chromosome 18: A map with clinical utility

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

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


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
Issue number11
StatePublished - Nov 2009


  • Chromosome 18
  • Chromosome abnormality
  • Chromosome deletions
  • Gene dosage
  • Haploinsuffi-ciency

ASJC Scopus subject areas

  • Genetics(clinical)


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