TY - JOUR
T1 - A gene dosage map of Chromosome 18
T2 - A map with clinical utility
AU - Cody, Jannine D.
AU - Carter, Erika M.
AU - Sebold, Courtney
AU - Heard, Patricia L.
AU - Hale, Daniel E.
PY - 2009/11
Y1 - 2009/11
N2 - 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.
AB - 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.
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U2 - 10.1097/GIM.0b013e3181b6573d
DO - 10.1097/GIM.0b013e3181b6573d
M3 - Article
C2 - 19745747
AN - SCOPUS:73849099307
SN - 1098-3600
VL - 11
SP - 778
EP - 782
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 11
ER -