| Autor: |
Thieme Heike, von Eggeling Ferdinand, Mrasek Kristin, Alehan Dursun, Utine Eda, Weise Anja, Aktas Dilek, Tuncbilek Ergul, Liehr Thomas |
| Jazyk: |
angličtina |
| Rok vydání: |
2009 |
| Předmět: |
|
| Zdroj: |
Molecular Cytogenetics, Vol 2, Iss 1, p 14 (2009) |
| Druh dokumentu: |
article |
| ISSN: |
1755-8166 |
| DOI: |
10.1186/1755-8166-2-14 |
| Popis: |
Abstract Background Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features. We report on a patient with various clinical malformations and developmental delay in connection with an inverted duplication event, involving chromosome 8p. Methods Chromosome analysis, multicolor banding analysis (MCB), extensive fluorescence in situ hybridization (FISH) analysis and microsatellite analysis were performed. Results The karyotype was characterized in detail by multicolor banding (MCB), subtelomeric and centromere-near probes as 46,XY,dup(8)(pter->p23.3::p12->p23.3::p23.3->qter). Additionally, microsatellite analysis revealed the paternal origin of the duplication and gave hints for a mitotic recombination involving about 6 MB in 8p23.3. Conclusion A comprehensive analysis of the derivative chromosome 8 suggested a previously unreported mechanism of formation, which included an early mitotic aberration leading to maternal isodisomy, followed by an inverted duplication of the 8p12p23.3 region. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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