Document Detail


Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter.
MedLine Citation:
PMID:  15823925     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: 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. METHOD: 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. CONCLUSION: 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:
Amy C Cohn; Lisa S Kearns; Ravi Savarirayan; Jacinta Ryan; Jamie E Craig; David A Mackey
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Ophthalmic genetics     Volume:  26     ISSN:  1381-6810     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  2005 Mar 
Date Detail:
Created Date:  2005-04-12     Completed Date:  2005-05-03     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  45-53     Citation Subset:  IM    
Affiliation:
Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, Eats Melbourne, VIC 3002, Australia.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Chromosome Aberrations*
Chromosomes, Human, Pair 8 / genetics*
Chromosomes, Human, Pair 9 / genetics*
Fatal Outcome
Female
Glaucoma / congenital*,  diagnosis,  genetics*
Humans
Infant
Karyotyping
Linkage (Genetics)
Male
Monosomy*
Mosaicism
Pedigree
Translocation, Genetic
Trisomy*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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