Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3
Article first published online: 13 FEB 2007
Developmental Medicine & Child Neurology
Volume 42, Issue 3, pages 201–206, March 2000
How to Cite
Knight-Jones, E., Knight, S., Heussler, H., Regan, R., Flint, J. and Martin, K. (2000), Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3. Developmental Medicine & Child Neurology, 42: 201–206. doi: 10.1111/j.1469-8749.2000.tb00071.x
- Issue published online: 13 FEB 2007
- Article first published online: 13 FEB 2007
- Accepted for publication 25th August 1999.
We describe four children with dysmorphic syndrome with severe learning disability (SLD). Their chromosomes had been normal on conventional cytogenetic examination. However, screening using a multiprobe fluorescence in situ hybridisation (FISH) technique for subtelomeric abnormalities revealed a deletion of the p arm of chromosome 1. The physical features include body asymmetry, microcephaly, distinctive facies with deep-set eyes, sharply defined eye sockets, and mid-face hypoplasia; the neurodevelopmental profile was characterised by SLD, motor delay with hypotonia, markedly delayed visual maturation, and postural asymmetry together with epilepsy. This phenotype is consistent with that described for partial monosomy for 1p36.3.