Clinical Impact of Proximal Autosomal Imbalances

Centromere-near gain of copy number can be induced by intra- or inter-chromosomal rearrangements or by the presence of a small supernumerary marker chromosome (sSMC). Interestingly, partial trisomy to hexasomy of euchromatic material may be present in clinically healthy or affected individuals, depe...

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Bibliographic Details
Main Authors: Hamid A.B., Weise A., Voigt M., Bucksch M., Kosyakova N., Liehr T., Klein E.
Format: Article
Language:English
Published: Sciendo 2012-12-01
Series:Balkan Journal of Medical Genetics
Online Access:https://doi.org/10.2478/bjmg-2013-0002