13q-Syndrome (13q Deletion Syndrome) 1228

General: Chromosome 13q deletion syndrome.

Ocular: Retinoblastoma; telecanthus; hypertelorism; optic nerve hypoplasia; retinal dysplasia.

Clinical: Holoprosencephaly; abnormal lower extremity configuration; atrial septal defect; microcephaly; ambiguous genitalia; hypotonia; low-set ears; growth retardation; mild mental retardation; intestinal atresia.

Nishikawa A, et al. A 13q-syndrome with extensive intestinal atresia. Acta Paediatr Scand 1985; 74:305-308.

Santolaya J, et al. Ultrasonographic prenatal diagnosis of the 13q- syndrome. Fetal Diagn Ther 1993; 8:261-267.

Stoll C, Alembik Y. A patient with 13q-syndrome with mild mental retardation and with growth retardation. Ann Genet 1998; 41:209-212.

Weichselbaum RR, et al. New findings in the chromosome 13 long-arm deletion syndrome and retinoblastoma. Ophthalmology 1979; 86:1191-1201.