Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

BACKGROUND: Small supernumerary marker chromosomes (sSMC) are present ~2.6 × 10(6 )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...

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Detalles Bibliográficos
Autores principales: Trifonov, Vladimir, Fluri, Simon, Binkert, Franz, Nandini, Adayapalam, Anderson, Jasen, Rodriguez, Laura, Gross, Madeleine, Kosyakova, Nadezda, Mkrtchyan, Hasmik, Ewers, Elisabeth, Reich, Daniela, Weise, Anja, Liehr, Thomas
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375881/
https://www.ncbi.nlm.nih.gov/pubmed/18471318
http://dx.doi.org/10.1186/1755-8166-1-6
Descripción
Sumario:BACKGROUND: Small supernumerary marker chromosomes (sSMC) are present ~2.6 × 10(6 )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.

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