Balkan Journal of Medical Genetics

HUMAN RING CHROMOSOMES – NEW INSIGHTS FOR THEIR CLINICAL SIGNIFICANCE
Guilherme RS1,2, Klein E1, Hamid AB1, Bhatt S1, Volleth M3, Polityko A4, Kulpanovich A5, Dufke A6, Albrecht B7, Morlot S8, Brecevic L9, Petersen MB10, Manolakos E10, Kosyakova N1, Liehr T1*
*Corresponding Author: Thomas Liehr, Institut für Humangenetik, Kollegiengasse 10, Postfach D-07740 Jena, Germany; Tel.: +49-3641-935533; Fax: +49-3641-935582; E-mail: i8lith@mti.uni-jena.de
page: 13

MATERIALS AND METHODS

Twenty-nine cases with ring chromosomes were studied for different clinical reasons (see Table 1). Eight cases were detected prenatally (amniocytes studied), eight due developmental delay and dysmorphic signs, and nine in connection with infertility and/or Turner syndrome; in four cases the reason for the study was not transmitted to the laboratory at Jena, Germany (peripheral blood studied). Chromosomes were prepared according to standard procedures. The cases were studied using standard banding cytogenetics and by means of FISH (fluorescence in situ hybridization). Previously published high resolution approaches such as multicolor banding (MCB) [9,10], subcentromere-specific multicolor- FISH (cenM-FISH) [6] and two to three-color-FISH applying locus-specific and/or commercially available centromere specific probes (Abbott/Vysis, Wiesbaden, Germany and/or Kreatech, Amsterdam, The Netherlands) were used. Locus-specific probes and also commercial probes, such as subtelomeric ones (Abbott/Vysis) or bacterial artificial chromosome (BAC) probes, were applied. Labeling and application of the probes was done according to the manufacturer’s instructions or as reported [11].

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