Title: Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome
Authors: Devriendt, Koenraad ×
De Mars, K
De Cock, Paul
Gewillig, Marc
Fryns, Jean-Pierre #
Issue Date: 1995
Publisher: Elsevier Science
Series Title: Annales de Génétique vol:38 issue:4 pages:228-30
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.
ISSN: 0003-3995
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Brain & Metabolism Section (-)
Pediatric Cardiology Section (-)
Cardiovascular Developmental Biology
Department of Human Genetics - miscellaneous
Youth Health (-)
× corresponding author
# (joint) last author

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