title: Molecular characterization of a ring chromosome 16 from a patient with bilateral cataracts.
abstract: A four-month-old white female, who was referred to us for genetic evaluation because of severe developmental delay, dysmorphic features, and bilateral cataracts, was found by routine cytogenetic analysis to have ring chromosome 16 in almost all cells analyzed. Ring chromosome 16 was confirmed and further delineated by fluorescence in situ hybridization (FISH). Breakpoints between loci D16S521 and KG8 on the short arm and D16S3121 and D16S303 on the long arm of chromosome 16 were determined by polymerase chain reaction (PCR) analysis. The deleted chromosome was of maternal origin. To our knowledge, this is the first case of ring chromosome 16 associated with bilateral cataracts. Comparison of previously reported cases with deletion of chromosome 16 and our case suggests the presence of cataract locus within 1 Mb of the terminus of 16q.
authors.affiliation: Department of Medical Genetics, University of South Alabama, Mobile, Alabama, USA.
authors.forename: Weigong
authors.initials: W
authors.lastname: He
authors.forename: Cathy M
authors.initials: CM
authors.lastname: Tuck-Muller
authors.forename: José E
authors.initials: JE
authors.lastname: Martínez
authors.forename: Shibo
authors.initials: S
authors.lastname: Li
authors.forename: Ewellonda R
authors.initials: ER
authors.lastname: Rowley
authors.forename: Wladimir
authors.initials: W
authors.lastname: Wertelecki
mesh_terms: D002386:Cataract / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16; D020732:Cytogenetic Analysis; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007223:Infant; D012303:Ring Chromosomes
chemical_list: D005819:Genetic Markers