[Syndromes 3. Velo-cardio-facial (VCF/Shprintzen) syndrome].
The clinical symptomatology of the velo-cardio-facial (VCF/Shprintzen) syndrome is briefly described. In VCF syndrome a microdeletion of chromosome 22q11.2 can be found, as well as in a number of other clinical entities, leading to the conclusion that it is probably better to speak of the 22q11.2 clinical spectrum.
Beemer
F A
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Klinisch Genetisch Centrum Utrecht, postbus 18.009, 3501 CA Utrecht.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics / Q000473:pathology; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D013577:Syndrome; D014681:Velopharyngeal Insufficiency / Q000235:genetics* / Q000473:pathology
Syndromen 3. Het velo-cardio-faciaal (VCF/Shprintzen) syndroom.