title: Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter.
abstract: OBJECTIVE
  To present a case of congenital glaucoma with an unbalanced translocation trisomy 8q22-qter/monosomy 9p23-pter, resulting in trisomy of the GLC1D locus. To perform a literature review of chromosomal abnormalities associated with glaucoma.
  
  
  METHODS
  A case report of a family with balanced translocation without glaucoma and unbalanced translocation with congenital glaucoma. PubMed and OMIM databases were searched for reports of chromosomal abnormalities and glaucoma.
  
  
  RESULTS
  Other case reports of congenital glaucoma with chromosomal abnormalities in this region were identified. A review of cytogenetics in southeastern Australia found nine cases involving the loss of 9p23 and 10 cases involving mosaicism for trisomy 8, but none had congenital glaucoma. A review of the literature identified reports of glaucoma and chromosomal abnormalities in regions with glaucoma loci mapped by conventional linkage analysis. These include the loci GLC1B, GLC1C, GLC1D, GLC1F, GPDS1, and RIEG2.
  
  
  CONCLUSIONS
  The study of patients with glaucoma and chromosomal abnormalities may help to identify new glaucoma genes. Ophthalmologists can assist with this by requesting cytogenetic studies on congenital and developmental glaucoma cases and interacting with ophthalmic genetics researchers.
authors.affiliation: Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, Eats Melbourne, VIC 3002, Australia.
authors.forename: Amy C
authors.initials: AC
authors.lastname: Cohn
authors.forename: Lisa S
authors.initials: LS
authors.lastname: Kearns
authors.forename: Ravi
authors.initials: R
authors.lastname: Savarirayan
authors.forename: Jacinta
authors.initials: J
authors.lastname: Ryan
authors.forename: Jamie E
authors.initials: JE
authors.lastname: Craig
authors.forename: David A
authors.initials: DA
authors.lastname: Mackey
mesh_terms: D000293:Adolescent; D002869:Chromosome Aberrations; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D008040:Genetic Linkage; D005901:Glaucoma / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D009030:Mosaicism; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy