
CHARACTERIZATION OF SMALL SUPERNUMERARY MARKER CHROMOSOMES BY A SIMPLE MOLECULAR AND
MOLECULAR CYTOGENETICS APPROACH
Liehr T1,*, Trifonov V1,2, Polityko A1,3, Brecevic L1,4, Mrasek K1, Weise A1, Ewers E1,
Reich D1, Iourov I1,5, Mkrtchyan H1,6, Manvelyan M1,6, Kosyakova N1,7
*Corresponding Author: Dr. Thomas Liehr, Institut für Humangenetik und Anthropologie, Kollegiengasse 10, D-07743 Jena, Germany; Tel.: +49-3641-935533; Fax: 0049-3641-935582; E-mail: i8lith@mti.uni-jena.de
page: 33
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DISCUSSION
Our straightforward algorithms for characterization of the origin of an sSMC has the advantages that it can be performed without the use of sophisticated or highly specialized equipment, except for one- or two-color-FISH and that it provides the chromosomal origin of a sSMC. Moreover, if molecular genetic approaches such as micro satellite analysis are available, a possible disease-causing UPD can be excluded. However, only subcenM-FISH [15] or array-CGH (comparative genomic hybridization) [22] can exclude or detect a small partial tri- or polysomy of the centromere-near region of the sSMC. In most cases, after exclusion of an UPD of an sSMC’s sister chromosome, such an imbalance determines the clinical effect of the marker chromosome [16]. When possibilities for determination of the euchromatic contents of an sSMC are not available, all reported sSMC cases (sorted by chromosomal origin) can be found on the sSMC homepage [9]. The authors welcome the opportunity to characterize sSMC cases by subcenM-FISH or other approaches.
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