[22q11.2 chromosome deletion and velo-cardio-facial syndrome in a   patient with tetralogy of Fallot].
Velo-cardio-facial syndrome includes the following clinical features: congenital heart anomaly, velo-pharyngeal malformations and dysmorphic facial features. In 80% of the patients microdeletion of the long arm of chromosome 22 can be detected. Many patients with DiGeorge syndrome have the same underlying chromosomal etiology, however the same deletion results in severe dysmorphic features, immune defect, hypocalcaemia and in severe mental retardation. In isolated heart defects deletion can be detected in about 15% of the patients. We report the detection of the microdeletion in a patient with tetralogy of Fallot, minimal dysmorphic facial features and normal psychomotor development. Early diagnosis of 22q11.2 chromosomal deletion is important for genetic counseling and further rehabilitation. We emphasize the importance of genetic screening in patients with isolated congenital heart defects.
Morava
E
E
Pécsi Tudományegyetem, Altalános Orvostudományi Kar, Orvosi Genetikai és Gyermekfejlódéstani Intézet.
Masszi
G
G
Czakó
M
M
Tóth
G
G
Melegh
B
B
Kosztolányi
G
G
D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D011597:Psychomotor Performance; D013771:Tetralogy of Fallot / Q000235:genetics*; D014681:Velopharyngeal Insufficiency / Q000235:genetics*