EVIDENCE FOR CORRELATION OF FRAGILE SITES
AND CHROMOSOMAL BREAKPOINTS IN CARRIERS
OF CONSTITUTIONAL BALANCED CHROMOSOMAL
REARRANGEMENTS
Liehr T*, Kosayakova N, Schröder J, Ziegler M, Kreskowski K,
Pohle B, Bhatt S, Theuss L, Wilhelm K, Weise A, Mrasek K
*Corresponding Author: Thomas Liehr, Universitätsklinikum Jena, Institut für Humangenetik, 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
A molecular cytogenetic study of 251 cases with
balanced chromosomal rearrangements detected due
to infertility of unclear origin or in prenatal diagnostics
with a later normal outcome was done. Balanced translocations
(127 cases), inversions (105 cases), insertions
(three cases), balanced complex rearrangements (four
cases), or derivative chromosomes leading to no imbalance
(12 cases), were studied by multicolor banding
(MCB) and/or subcentromeric multicolor fluorescence
in situ hybridization (subcenM-FISH). Five-hundred
and twenty-nine break-events were characterized by
molecular cytogenetics. Only 150 of these were unique
breakpoints, the remainder were observed between
two and 10 times. According to the results obtained,
there was cytogenetic co-localization of fragile site
(FS) in ~71% of the studied 529 break-events. Nine
selected cases with evidence for breakpoints within FS
were further analyzed by FS-specific bacterial artificial
chromosome (BAC) probes; only one did not show a
co-localization. Further detailed molecular analysis
will be necessary to characterize the mechanisms and
genetic basis for this phenomenon.
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