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Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding
BACKGROUND: Complex chromosomal rearrangements (CCRs) are defined as structural chromosomal rearrangements with at least three breakpoints and exchange of genetic material between two or more chromosomes. Complex chromosomal translocations are rarely seen in the general population but the frequency...
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2008
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2531127/ https://www.ncbi.nlm.nih.gov/pubmed/18687140 http://dx.doi.org/10.1186/1755-8166-1-17 |
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author | Karadeniz, Nilüfer Mrasek, Kristin Weise, Anja |
author_facet | Karadeniz, Nilüfer Mrasek, Kristin Weise, Anja |
author_sort | Karadeniz, Nilüfer |
collection | PubMed |
description | BACKGROUND: Complex chromosomal rearrangements (CCRs) are defined as structural chromosomal rearrangements with at least three breakpoints and exchange of genetic material between two or more chromosomes. Complex chromosomal translocations are rarely seen in the general population but the frequency of occurrence is anticipated to be much higher due balanced states with no phenotypic presentation. Here, we report a severely mentally retarded fertile male patient in whom further delineation of CCR involving chromosomes 1, 4 and 2 was carried out by using high resolution multicolor banding (MCB) technique. As a FISH based novel chromosome banding approach, high resolution MCB allows for the differentiation of chromosome region specific areas at band and subband levels. RESULTS: Cytogenetic studies using high resolution banding of the proband necessitated further delineation of the breakpoints because of their uncertainty: 46,XY,t(1;4;2)(p21~31;q31.3;q31). After using high resolution MCB based on microdissection derived region-specific libraries, the exact nature of chromosomal rearrangements for chromosomes 1, 2 and 4 were revealed and these breakpoints were located on 1p31.1, 1q24.3 and 4q31.3 giving rise to a balanced situation. CONCLUSION: Further delineations are certainly required to provide detailed information about the relationship between balanced CCRs and their phenotypes in order to offer proper counseling to the families concerned. Carriers must be investigated with high resolution banding and molecular cytogenetic techniques to determine the exact locations of the breakpoints. High resolution MCB is an alternative and an efficient method to other FISH based chromosome banding techniques and can serve in clarifying the nature of CCR. |
format | Text |
id | pubmed-2531127 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2008 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-25311272008-09-06 Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding Karadeniz, Nilüfer Mrasek, Kristin Weise, Anja Mol Cytogenet Research BACKGROUND: Complex chromosomal rearrangements (CCRs) are defined as structural chromosomal rearrangements with at least three breakpoints and exchange of genetic material between two or more chromosomes. Complex chromosomal translocations are rarely seen in the general population but the frequency of occurrence is anticipated to be much higher due balanced states with no phenotypic presentation. Here, we report a severely mentally retarded fertile male patient in whom further delineation of CCR involving chromosomes 1, 4 and 2 was carried out by using high resolution multicolor banding (MCB) technique. As a FISH based novel chromosome banding approach, high resolution MCB allows for the differentiation of chromosome region specific areas at band and subband levels. RESULTS: Cytogenetic studies using high resolution banding of the proband necessitated further delineation of the breakpoints because of their uncertainty: 46,XY,t(1;4;2)(p21~31;q31.3;q31). After using high resolution MCB based on microdissection derived region-specific libraries, the exact nature of chromosomal rearrangements for chromosomes 1, 2 and 4 were revealed and these breakpoints were located on 1p31.1, 1q24.3 and 4q31.3 giving rise to a balanced situation. CONCLUSION: Further delineations are certainly required to provide detailed information about the relationship between balanced CCRs and their phenotypes in order to offer proper counseling to the families concerned. Carriers must be investigated with high resolution banding and molecular cytogenetic techniques to determine the exact locations of the breakpoints. High resolution MCB is an alternative and an efficient method to other FISH based chromosome banding techniques and can serve in clarifying the nature of CCR. BioMed Central 2008-08-07 /pmc/articles/PMC2531127/ /pubmed/18687140 http://dx.doi.org/10.1186/1755-8166-1-17 Text en Copyright © 2008 Karadeniz et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Karadeniz, Nilüfer Mrasek, Kristin Weise, Anja Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding |
title | Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding |
title_full | Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding |
title_fullStr | Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding |
title_full_unstemmed | Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding |
title_short | Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding |
title_sort | further delineation of complex chromosomal rearrangements in fertile male using multicolor banding |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2531127/ https://www.ncbi.nlm.nih.gov/pubmed/18687140 http://dx.doi.org/10.1186/1755-8166-1-17 |
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