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Title: A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8
Authors: Claeys, I ×
Holvoet, M
Eyskens, Benedicte
Adriaenssens, Peter
Gewillig, Marc
Fryns, Jean-Pierre
Devriendt, Koenraad #
Issue Date: Sep-1997
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics vol:74 issue:5 pages:515-20
Abstract: We report the clinical findings in 5 patients with a terminal deletion of the short arm of chromosome 8. Mild developmental delay was constantly present, in association with microcephaly in 4 of 5 patients. Facial anomalies were mild or absent. A congenital heart defect was present in 3 patients: an atrioventricular septal defect (AVSD) in 2 and an atrial septal defect type II (ASDII) with pulmonary stenosis in one. A highly similar pattern of behavioural difficulties was present in the 3 older children (8-11 years), with outbursts of aggressiveness and destructive behaviour. Follow-up in one patient showed that at the age of 16 years, these behavioural problems had largely disappeared. This observation suggests that in addition to mental retardation, microcephaly, congenital heart defect (typically AVSD), a terminal deletion of chromosome 8p may be associated with a characteristic behavioural phenotype during childhood.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Pediatric Cardiology Section (-)
Cardiovascular Developmental Biology
Department of Human Genetics - miscellaneous
Research Group Psychiatry
× corresponding author
# (joint) last author

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