title: Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
abstract: Deletions of chromosome 22q11 have been seen in association with DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). In the present study, we analysed samples from 76 patients referred with a diagnosis of either DGS or VCFS to determine the prevalence of 22q11 deletions in these disorders. Using probes and cosmids from the DiGeorge critical region (DGCR), deletions of 22q11 were detected in 83% of DGS and 68% of VCFS patients by DNA dosage analysis, fluorescence in situ hybridisation, or by both methods. Combined with our previously reported patients, deletions have been detected in 88% of DGS and 76% of VCFS patients. The results of prenatal testing for 22q11 deletions by FISH in two pregnancies are presented. We conclude that FISH is an efficient and direct method for the detection of 22q11 deletions in subjects with features of DGS and VCFS as well as in pregnancies at high risk for a deletion.
authors.affiliation: Department of Obstetrics and Gynecology, Hospital of the University of Pennsylvania, Philadelphia 19104.
authors.forename: D A
authors.initials: DA
authors.lastname: Driscoll
authors.forename: J
authors.initials: J
authors.lastname: Salvin
authors.forename: B
authors.initials: B
authors.lastname: Sellinger
authors.forename: M L
authors.initials: ML
authors.lastname: Budarf
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics; D004252:DNA Mutational Analysis; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D017353:Gene Deletion; D005817:Genetic Counseling; D005820:Genetic Testing; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015995:Prevalence; D013577:Syndrome; D014681:Velopharyngeal Insufficiency / Q000175:diagnosis / Q000235:genetics