A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8.
Am J Med Genet
; 74(5): 515-20, 1997 Sep 19.
Article
in En
| MEDLINE
| ID: mdl-9342203
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Chromosomes, Human, Pair 8
/
Child Behavior
/
Chromosome Aberrations
/
Chromosome Deletion
Type of study:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Child
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
Am J Med Genet
Year:
1997
Document type:
Article
Affiliation country:
Belgium