Article
A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8.
American journal of medical genetics - 19 Sept 1997
Claeys I, Holvoet M, Eyskens B, Adriaensens P, Gewillig M, Fryns J P, Devriendt K
Abstract excerpt
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:...
Topics
- Behavioral Symptoms
- Child
- Child Behavior
- Chromosome Aberrations
- Chromosome Deletion
- Chromosomes, Human, Pair 8
- Female
- Follow-Up Studies
- Heart Defects, Congenital
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability
- Male
- Microcephaly
- Phenotype