Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
<p>Abstract</p> <p>Background</p> <p>Small supernumerary marker chromosomes (sSMC) are present ~2.6 × 10<sup>6 </sup>human worldwide. sSMC are a heterogeneous group of derivative chromosomes concerning their clinical consequences as well as their chromosomal...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2008-04-01
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| Series: | Molecular Cytogenetics |
| Online Access: | http://www.molecularcytogenetics.org/content/1/1/6 |
| _version_ | 1819140042787913728 |
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| author | Mkrtchyan Hasmik Kosyakova Nadezda Gross Madeleine Rodriguez Laura Anderson Jasen Nandini Adayapalam Binkert Franz Fluri Simon Trifonov Vladimir Ewers Elisabeth Reich Daniela Weise Anja Liehr Thomas |
| author_facet | Mkrtchyan Hasmik Kosyakova Nadezda Gross Madeleine Rodriguez Laura Anderson Jasen Nandini Adayapalam Binkert Franz Fluri Simon Trifonov Vladimir Ewers Elisabeth Reich Daniela Weise Anja Liehr Thomas |
| author_sort | Mkrtchyan Hasmik |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Small supernumerary marker chromosomes (sSMC) are present ~2.6 × 10<sup>6 </sup>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.</p> <p>Results</p> <p>Here we report three new cases of unique complex sSMC. One was a <it>de novo </it>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.</p> <p>Conclusion</p> <p>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.</p> |
| first_indexed | 2024-12-22T11:32:16Z |
| format | Article |
| id | doaj.art-386f7b1ac7c4449cb6a91758e24198e6 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-22T11:32:16Z |
| publishDate | 2008-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-386f7b1ac7c4449cb6a91758e24198e62022-12-21T18:27:34ZengBMCMolecular Cytogenetics1755-81662008-04-0111610.1186/1755-8166-1-6Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?Mkrtchyan HasmikKosyakova NadezdaGross MadeleineRodriguez LauraAnderson JasenNandini AdayapalamBinkert FranzFluri SimonTrifonov VladimirEwers ElisabethReich DanielaWeise AnjaLiehr Thomas<p>Abstract</p> <p>Background</p> <p>Small supernumerary marker chromosomes (sSMC) are present ~2.6 × 10<sup>6 </sup>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.</p> <p>Results</p> <p>Here we report three new cases of unique complex sSMC. One was a <it>de novo </it>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.</p> <p>Conclusion</p> <p>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.</p>http://www.molecularcytogenetics.org/content/1/1/6 |
| spellingShingle | Mkrtchyan Hasmik Kosyakova Nadezda Gross Madeleine Rodriguez Laura Anderson Jasen Nandini Adayapalam Binkert Franz Fluri Simon Trifonov Vladimir Ewers Elisabeth Reich Daniela Weise Anja Liehr Thomas Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity? Molecular Cytogenetics |
| title | Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity? |
| title_full | Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity? |
| title_fullStr | Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity? |
| title_full_unstemmed | Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity? |
| title_short | Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity? |
| title_sort | complex rearranged small supernumerary marker chromosomes ssmc three new cases evidence for an underestimated entity |
| url | http://www.molecularcytogenetics.org/content/1/1/6 |
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