Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes : implications for genetic counselling and prenatal diagnosis.
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 66% 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.
Mots-clés Pascal : Immunodéficit héréditaire DiGeorge, Chromosome G22 anormal, Chromosome anormal, Aberration chromosomique, Homme, Délétion, Immunopathologie, Appareil circulatoire pathologie, Stomatologie, Endocrinopathie, Conseil génétique, Diagnostic, Syndrome complexe, Epidémiologie, Hybridation moléculaire, In situ, Fluorescence, Cytogénétique, Biologie moléculaire, Génétique, Exploration, Microdéletion, Prénatal, Prévalence, Vélocardiofacial syndrome
Mots-clés Pascal anglais : DiGeorge syndrome, Abnormal G22 chromosome, Abnormal chromosome, Chromosomal aberration, Human, Deletion, Immunopathology, Cardiovascular disease, Stomatology, Endocrinopathy, Genetic counseling, Diagnosis, Complex syndrome, Epidemiology, Molecular hybridization, In situ, Fluorescence, Cytogenetics, Molecular biology, Genetics, Exploration, Prenatal, Prevalence, Velocardiofacial syndrome
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 93-0675214
Code Inist : 002B23E. Création : 199406.