Ring chromosome instability evaluation in six patients with autosomal rings

Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigated ring chromosome instability in six patients with ring chromosomes 4, 14, 15, and 18 by examining 48-...

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Bibliographic Details
Published in:Genetics and molecular research 2010-01, Vol.9 (1), p.134-143
Main Authors: Sodré, C P, Guilherme, R S, Meloni, V F A, Brunoni, D, Juliano, Y, Andrade, J A D, Belangero, S I N, Christofolini, D M, Kulikowski, L D, Melaragno, M I
Format: Article
Language:English
Subjects:
Cell Count
Child
Child, Preschool
Chromosomal Instability - genetics
DNA Replication
Female
Humans
Infant
Infant, Newborn
Male
Metaphase
Pregnancy
Ring Chromosomes
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Summary:Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigated ring chromosome instability in six patients with ring chromosomes 4, 14, 15, and 18 by examining 48- and 72-h lymphocyte cultures at the first, second and subsequent cell divisions after bromodeoxyuridine incorporation. Although most cells from all patients showed only one monocentric ring chromosome, ring chromosome loss and secondary aberrations were observed both in 48- and 72-h lymphocyte cultures and in metaphase cells of the different cell generations. We found no clear-cut correlation between ring size and ring instability; we also did not find differences between apparently complete rings and rings with genetic material loss. The cytogenetic findings revealed secondary aberrations in all ring chromosome patients. We concluded that cells with ring chromosome instability can multiply and survive in vivo, and that they can influence the patient's phenotype.
ISSN:1676-5680
1676-5680
DOI:10.4238/vol9-1gmr707