3p-Syndrome (3p Deletion Syndrome) 1232

General: Chromosome 3p deletion syndrome.

Ocular: Blepharoptosis, telecanthus, mongoloid (down-slanting) palpebral fissures.

Clinical: Mental retardation, profound growth failure, characteristic facies, low birth weight, trigonocephaly, psychomotor delay, micrognathia.

Drumheller T, et al. Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome. J Med Genet 1996; 33:842-847.

Higgins JJ, et al. A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter. Neurology 2000; 55: 335-340.