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
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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.
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