title: PCR assay for screening patients at risk for 22q11.2 deletion.
abstract: Deletions of 22q11.2 have been detected in the majority of patients with DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes by either cytogenetic analysis, fluorescence in situ hybridization (FISH), or Southern blot hybridization. However, these techniques may not be the most efficient or cost-effective means of screening large numbers of "at-risk" patients. Therefore, we developed a PCR assay to assess a patient's likelihood of having a 22q11.2 deletion based on homozygosity at consecutive markers in the DiGeorge chromosomal region. The sensitivity and specificity of PCR screening were evaluated in a cohort of cardiac patients. We conclude that a PCR-based assay is a reliable and efficient means of identifying which patients are at greatest risk for a 22q11.2 deletion and should have FISH studies to confirm their deletion status.
authors.affiliation: Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA 19104, USA.
authors.forename: D A
authors.initials: DA
authors.lastname: Driscoll
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: L E
authors.initials: LE
authors.lastname: Mitchell
authors.forename: M L
authors.initials: ML
authors.lastname: Budarf
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001483:Base Sequence; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D015331:Cohort Studies; D017931:DNA Primers / Q000235:genetics; D004062:DiGeorge Syndrome / Q000235:genetics; D005069:Evaluation Studies as Topic; D005145:Face / Q000002:abnormalities; D005820:Genetic Testing / Q000379:methods*; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016133:Polymerase Chain Reaction / Q000379:methods* / Q000706:statistics & numerical data; D011110:Polymorphism, Genetic; D012680:Sensitivity and Specificity; D013577:Syndrome; D020080:Tandem Repeat Sequences
chemical_list: D017931:DNA Primers