CLINICAL IMPACT OF PROXIMAL
AUTOSOMAL IMBALANCES
Hamid AB, Weise A, Voigt M, Bucksch M, Kosyakova N, Liehr T,* Klein E
*Corresponding Author: Dr. Thomas Liehr, Universitätsklinikum Jena, Institut für Humangenetik,
Kollegiengasse 10, D-07743 Jena, Germany; Tel.: +49-3641-935533; Fax. ++49-3641-935582; E-mail:
i8lith@mti.uni-jena.de
page: 15
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CONCLUSIONS
The sSMC are a long time underestimated
source for the understanding of proximal chromosomal
imbalances in humans. New information on
regions of the human genome, possibly inert to copy
number changes, can be acquired from this group of
patients. Moreover, effects such as heterochromatization
[3] or feedback-loops in gene regulation [28]
might also be considered for the understanding of the
effects of such imbalances. Comprehensive studies of
more aberrant cases will also lead to new genotypephenotype
correlations and to the possibility of a
clinical sub-differentiation of more sSMC cases. All
these goals can only be achieved by a sophisticated
balance of single cell analysis (such as in mosaic
cases) and genomics-based medicine (such as for
array-based approaches).
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