Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
| Autor: | Nadezda Kosyakova, Thomas Liehr, Daniela Reich, Jasen Anderson, Elisabeth Ewers, Adayapalam Nandini, Simon Fluri, Hasmik Mkrtchyan, Vladimir A. Trifonov, Franz Binkert, Anja Weise, Laura Rodríguez, Madeleine Gross |
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| Přispěvatelé: | Deutsche Forschungsgemeinschaft (Alemania), Boehringer Ingelheim Fonds |
| Rok vydání: | 2007 |
| Předmět: |
Biochemistry
medical Genetics medicine.medical_specialty Heterogeneous group lcsh:QH426-470 medicine.diagnostic_test Research Biochemistry (medical) Cytogenetics Biology medicine.disease Biochemistry Emanuel syndrome Human genetics lcsh:Genetics Array-Based Comparative Genomic Hybridization medicine Molecular Medicine Genetics(clinical) Supernumerary Molecular Biology Small supernumerary marker chromosome Genetics (clinical) Fluorescence in situ hybridization |
| Zdroj: | Molecular Cytogenetics Molecular Cytogenetics, Vol 1, Iss 1, p 6 (2008) Repisalud Instituto de Salud Carlos III (ISCIII) |
| ISSN: | 1755-8166 |
| Popis: | Background Small supernumerary marker chromosomes (sSMC) are present ~2.6 × 106 human worldwide. sSMC are a heterogeneous group of derivative chromosomes concerning their clinical consequences as well as their chromosomal origin and shape. Besides the sSMC present in Emanuel syndrome, i.e. der(22)t(11;22)(q23;q11), only few so-called complex sSMC are reported. Results Here we report three new cases of unique complex sSMC. One was a de novo case with a dic(13 or 21;22) and two were maternally derived: a der(18)t(8;18) and a der(13 or 21)t(13 or 21;18). Thus, in summary, now 22 cases of unique complex sSMC are available in the literature. However, this special kind of sSMC might be under-diagnosed among sSMC-carriers. Conclusion More comprehensive characterization of sSMC and approaches like reverse fluorescence in situ hybridization (FISH) or array based comparative genomic hybridization (array-CGH) might identify them to be more frequent than only ~0.9% among all sSMC. |
| Databáze: | OpenAIRE |
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