Por favor, use este identificador para citar o enlazar este Item:http://hdl.handle.net/20.500.12105/7024
Título
Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
Autor(es)
Fecha de publicación
2008-04-15
Cita
Mol Cytogenet. 2008 Apr 15;1:6.
Idioma
Inglés
Tipo de documento
journal article
Resumen
BACKGROUND: Small supernumerary marker chromosomes (sSMC) are present ~2.6 x 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.
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DOI
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