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Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl


Brecevic, Lukrecija; Basaran, Seher; Dutly, Fabrizio; Röthlisberger, Benno; Schinzel, Albert (2000). Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl. Journal of Medical Genetics, 37(12):964-967.

Abstract

EDITOR—Application of chromosome painting has enabled confirmation that an additional segment in a presumed tandem duplication originates from the rearranged chromosome. More recent studies to determine more accurately the exact amount of duplication with cosmid FISH probes have, in a few instances, shown that some of the presumed duplications were in fact triplications of smaller segments.1-7 In some of these patients, unequal distances between the FISH signals showed that the middle segment of the tandemly arrayed three segments was in the opposite orientation to the two flanking segments,1 3 4 thus providing clues to the possible mechanism of formation.

Here we report on the clinical, cytogenetic, and molecular analysis of a patient displaying the same type of triplication for segment 13q14 including the retinoblastoma gene, again with opposite orientation of the middle segment.

Abstract

EDITOR—Application of chromosome painting has enabled confirmation that an additional segment in a presumed tandem duplication originates from the rearranged chromosome. More recent studies to determine more accurately the exact amount of duplication with cosmid FISH probes have, in a few instances, shown that some of the presumed duplications were in fact triplications of smaller segments.1-7 In some of these patients, unequal distances between the FISH signals showed that the middle segment of the tandemly arrayed three segments was in the opposite orientation to the two flanking segments,1 3 4 thus providing clues to the possible mechanism of formation.

Here we report on the clinical, cytogenetic, and molecular analysis of a patient displaying the same type of triplication for segment 13q14 including the retinoblastoma gene, again with opposite orientation of the middle segment.

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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics
Language:English
Date:December 2000
Deposited On:23 Jun 2023 12:16
Last Modified:29 Apr 2024 01:38
Publisher:BMJ Publishing Group
ISSN:0022-2593
OA Status:Closed
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1136/jmg.37.12.964
Related URLs:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734500/ (Library Catalogue)
PubMed ID:11186942
Other Identification Number:PMCID: PMC1734500