<abstract xmlns="http://www.w3.org/1999/xhtml"><p> Twenty-nine as yet unreported ring chromosomes were characterized in detail by cytogenetic and molecular techniques. For FISH (fluorescence in situ hybridization) previously published high resolution approaches such as multicolor banding (MCB), subcentromere-specific multi-color-FISH (cenM-FISH) and two to three-color-FISH applying locus-specific probes were used. Overall, ring chromosome derived from chromosomes 4 (one case), 10 (one case), 13 (five cases), 14, (three cases), 18 (two cases), 21 (eight cases), 22 (three cases), X (five cases) and Y (one case) were studied. Eight cases were detected prenatally, eight due developmental delay and dysmorphic signs, and nine in connection with infertility and/or Turner syndrome. In general, this report together with data from the literature, supports the idea that ring chromosome patients fall into two groups: group one with (severe) clinical signs and symptoms due to the ring chromosome and group two with no obvious clinical problems apart from infertility.</p></abstract>

Twenty-nine as yet unreported ring chromosomes were characterized in detail by cytogenetic and molecular techniques. For FISH (fluorescence in situ hybridization) previously published high resolution approaches such as multicolor banding (MCB), subcentromere-specific multi-color-FISH (cenM-FISH) and two to three-color-FISH applying locus-specific probes were used. Overall, ring chromosome derived from chromosomes 4 (one case), 10 (one case), 13 (five cases), 14, (three cases), 18 (two cases), 21 (eight cases), 22 (three cases), X (five cases) and Y (one case) were studied. Eight cases were detected prenatally, eight due developmental delay and dysmorphic signs, and nine in connection with infertility and/or Turner syndrome. In general, this report together with data from the literature, supports the idea that ring chromosome patients fall into two groups: group one with (severe) clinical signs and symptoms due to the ring chromosome and group two with no obvious clinical problems apart from infertility.

Human Ring Chromosomes – New Insights for their Clinical Significance

Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, D-07743 Jena, Germany

Department of Morphology and Genetics, Universidade Federal de São Paulo, 04023-900 São Paulo, SP, Brazil

Institut für Humangenetik, Otto-von-Guericke-Universität Magdeburg, 39120 Magdeburg, Germany

National Medical Center, ‘Mother and Child’, 220053 Minsk, Belarus

Belarus State Medical University, 220116 Minsk, Belarus

Institut für Humangenetik, 72076 Tübingen, Germany

Institut f. Humangenetik, Universitätsklinikum Essen, 45122 Essen, Germany

MVZ WagnerStibbe, 30159 Hannover, Germany

School of Medicine Zagreb University, Croatian Institute for Brain Research, 1000 Zagreb, Croatia

Eurogenetica S.A., 11527 Ampelokipoi, Athens, Greece

Institut für Humangenetik, Kollegiengasse 10, Postfach D-07740 Jena, Germany

Balkan Journal of Medical Genetics

{"article-title":"Human Ring Chromosomes \u2013 New Insights for their Clinical Significance"}

Twenty-nine as yet unreported ring chromosomes were characterized in detail by cytogenetic and molecular techniques. For FISH (fluorescence in situ...

Human Ring Chromosomes – New Insights for their Clinical Significance

Publié en ligne: 03 oct. 2013

Pages: 13 - 19

DOI: https://doi.org/10.2478/bjmg-2013-0013

This content is open access.