Title |
Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding
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Published in |
Molecular Cytogenetics, August 2008
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DOI | 10.1186/1755-8166-1-17 |
Pubmed ID | |
Authors |
Nilüfer Karadeniz, Kristin Mrasek, Anja Weise |
Abstract |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 10 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Other | 2 | 20% |
Student > Ph. D. Student | 2 | 20% |
Researcher | 2 | 20% |
Professor | 1 | 10% |
Student > Postgraduate | 1 | 10% |
Other | 0 | 0% |
Unknown | 2 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 4 | 40% |
Medicine and Dentistry | 3 | 30% |
Biochemistry, Genetics and Molecular Biology | 1 | 10% |
Unknown | 2 | 20% |