Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3.

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.

Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa.

A kindred is described in which X-linked nonspecific mental handicap segregates together with retinitis pigmentosa. Carrier females are mentally normal but may show signs of the X-linked retinitis pigmentosa carrier state and become symptomatic in their later years. Analysis of polymorphic DNA markers at nine loci on the short arm of the X chromosome shows that no crossing-over occurs between the disease and Xp11 markers DXS255, TIMP, DXS426, MAOA, and DXS228.

The abilities of very low-birthweight children and their classroom controls.

Forty-three children born in the Nottingham area in 1981 and weighing less than 1501g who had received treatment in the neonatal intensive care unit were followed up on entry to primary school at the age of five years. All were apparently normal, with no observable handicap or need for special educational provision. Their results on the McCarthy Scales of Children's Abilities were compared with those of closely matched classmates and significant differences were found between the two groups on all six scales, most markedly on the General Cognitive Index.