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Variants of chromosome 9 in the newborn population and their clinical significance

Publication at First Faculty of Medicine |
2012

Abstract

During cytogenetic examination we encounter various cytogenetic abnormalities. Not all of them (like structural or numerical chromosomal aberrations) are simply pathological.

So called chromosomal variants are the chromosomal abnormalities, that are not associated with any risks for their carriers. Especially the variants of the heterochromatin area of human chromosome 9 are very common.

Although these variants are also believed to be clinically insignificant findings, numerous authors had mentioned possible association of these variants with different types of congenital anomalies. However, in our study we have proved no such association.