X

General: Deletion of proximal part of long arm of the X chromosome; deletion covers part of region Xq21.1-Xq21.31, the locus for choroideremia; congenital deafness; probable mental retardation.

Ocular: Choroideremia, translucent pigment epithelium; peripheral hyperpigmentation; diffuse choriocapillary layer and retinal pigment epithelium; decreased night vision; optic atrophy; excessive myopia; nystagmus.

Clinical: Congenital deafness; mental retardation; corpus callosum agenesia; cleft lip and palate; anhidrotic ectodermal dysplasia; agammaglobulinemia.

Bleeker-Wagemakers LM, et al. Close linkage between Norrie disease: a cloned DNA sequence from the proximal short arm and the centromere of the X-chromosome. Hum Genet 1987; 71:211-214.

Rosenberg T, et al. Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion. Ophthalmic Paediatr Genet 1987; 8:139-l43.