Chromosome 14—Terminal Deletion and Cataracts

A Locus for Autosomal Recessive Congenital Microphthalmia Maps to Chromosome 14q32

“…A second inherited eye disorder, autosomal dominant congenital cataract (OMIM 115650), has been reported in association with a translocation involving chromosome 14q32 (Moross et al 1984;Miller et al 1992), and it is possible that this may represent an example of allelic heterogeneity.…”

A Locus for Autosomal Recessive Congenital Microphthalmia Maps to Chromosome 14q32

“…A second inherited eye disorder, autosomal dominant congenital cataract (OMIM 115650), has been reported in association with a translocation involving chromosome 14q32 (Moross et al 1984;Miller et al 1992), and it is possible that this may represent an example of allelic heterogeneity.…”

Current status of human chromosome 14

“…44 A second study reported a female proband with unilateral nuclear cataract (a form of anterior polar cataract) and other congenital disorders. 45 The index case had a mosaic 46,XX/46,XX,del(14)(q32.3) karyotype. This latter case was non-informative in the localisation of the locus for anterior polar cataract in the medial region of chromosome 14; however, it suggested an additional locus for anterior polar cataract at the distal band of chromosome 14.…”

A Locus for Autosomal Recessive Congenital Microphthalmia Maps to Chromosome 14q32

“…A second inherited eye disorder, autosomal dominant congenital cataract (OMIM 115650), has been reported in association with a translocation involving chromosome 14q32 (Moross et al 1984;Miller et al 1992), and it is possible that this may represent an example of allelic heterogeneity.…”

Current status of human chromosome 14

“…44 A second study reported a female proband with unilateral nuclear cataract (a form of anterior polar cataract) and other congenital disorders. 45 The index case had a mosaic 46,XX/46,XX,del(14)(q32.3) karyotype. This latter case was non-informative in the localisation of the locus for anterior polar cataract in the medial region of chromosome 14; however, it suggested an additional locus for anterior polar cataract at the distal band of chromosome 14.…”

A Locus for Autosomal Recessive Congenital Microphthalmia Maps to Chromosome 14q32

“…A second inherited eye disorder, autosomal dominant congenital cataract (OMIM 115650), has been reported in association with a translocation involving chromosome 14q32 (Moross et al 1984;Miller et al 1992), and it is possible that this may represent an example of allelic heterogeneity.…”

Current status of human chromosome 14

“…44 A second study reported a female proband with unilateral nuclear cataract (a form of anterior polar cataract) and other congenital disorders. 45 The index case had a mosaic 46,XX/46,XX,del(14)(q32.3) karyotype. This latter case was non-informative in the localisation of the locus for anterior polar cataract in the medial region of chromosome 14; however, it suggested an additional locus for anterior polar cataract at the distal band of chromosome 14.…”