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A Recognisable Behavioural Phenotype Associated with Terminal Deletions of the Short Arm of Chromosome 8 by Claeys, Ingrid; Holvoet, Maureen; Eyskens, Benedicte; Adriaensens, Peter; Gewillig, Marc; Fryns, Jean-Pierre; Devriendt, Koenraad is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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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.

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Author

Claeys, Ingrid; Holvoet, Maureen; Eyskens, Benedicte; Adriaensens, Peter; Gewillig, Marc; Fryns, Jean-Pierre; Devriendt, Koenraad

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

1997

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)