title: Anterior segment dysgenesis and congenital glaucoma associated with partial trisomy of chromosome 1 (1q32-qter).
abstract: A child born with partial trisomy of chromosome 1 (1q32-qter) survived and was seen for anterior segment dysgenesis and congenital glaucoma. Pure trisomy 1q is rarely seen in live-born infants and has not previously been described in association with congenital glaucoma. The genetic basis for glaucoma is complicated and multifactorial and probably determined by a number of genes on a variety of chromosomes. The current case provides some evidence that part of chromosome 1 may be involved with the etiology of a glaucomatous process.
authors.affiliation: British Columbia's Children's Hospital, University of British Columbia, Vancouver, Canada.
authors.forename: D C
authors.initials: DC
authors.lastname: Broadway
authors.forename: C J
authors.initials: CJ
authors.lastname: Lyons
authors.forename: B C
authors.initials: BC
authors.lastname: McGillivray
mesh_terms: D000869:Anterior Eye Segment / Q000002:abnormalities*; D002878:Chromosomes, Human, Pair 1; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000151:congenital* / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D014314:Trisomy