Author:
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
Abstract
Abstract
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.
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry
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