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

CONCLUSIONS

In general, this report supports the idea that ring chro-mosome patients fall into two groups: a larger one with (severe) clinical signs and symptoms due to the ring chromosome and a smaller one with no obvious clinical problems apart from infertility. The latter can be due to gamete instability at meiosis due to the ring chromosome which leads to an increased breakdown [22]. This cytogenetic study of 29 rings also shows that chromosomal imbalances are secondary inducings in ~85.0% of the cases by loss of the ring (68.0%), double ring formation (52.0%), ring opening (36.0%), ring doubling (16.0%) and complex changes of the ring itself (16.0%).

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