Molecular characterization of a ring chromosome 16 from a patient with bilateral cataracts

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 fu...

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Bibliographic Details
Published in:American journal of medical genetics 2002-01, Vol.107 (1), p.12-17
Main Authors: He, Weigong, Tuck-Muller, Cathy M., Martínez, José E., Li, Shibo, Rowley, Ewellonda R., Wertelecki, Wladimir
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cataract - genetics
cataracts
Chromosomes, Human, Pair 16
Cytogenetic Analysis
Female
fluorescence in situ hybridization (FISH)
Genetic Markers
Humans
In Situ Hybridization, Fluorescence - methods
Infant
Lens diseases
Medical sciences
Ophthalmology
polymerase chain reaction (PCR)
ring chromosome 16
Ring Chromosomes
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Summary: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. © 2001 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.10091