title: Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome.
abstract: A child with an atrial septal defect, hypernasal speech with an immobile soft palate, learning difficulties and behavioral problems is reported. The clinical diagnosis in this child was velo-cardio-facial syndrome (VCFS), but cytogenetic analysis showed the presence of a small terminal deletion in 8p23.1-8pter. This observation shows that deletions in 8p23 may lead to features similar to VCFS. This suggests that in patients with VCFS but without a deletion in 22q11, attention should be focussed on 8p.
authors.affiliation: Center for Human Genetics, University Hospital Leuven, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: K
authors.initials: K
authors.lastname: De Mars
authors.forename: P
authors.initials: P
authors.lastname: De Cock
authors.forename: M
authors.initials: M
authors.lastname: Gewillig
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D013577:Syndrome