| Abstract [eng] |
Chromosome structural rearrangements could cause various human health problems. Even Down’s or Turner’s syndromes, which are usually determined by chromosome number change, in some cases could be caused by chromosome structure abnormalities. Structure rerrangements of autosomes, depending on whether it is balanced origin or not, are responsible for various dysmorphic abnormalities or fertility problems. Chromosome breakpoints can occur in any part of chromosome and form any type of rearrangement, but only part of them could be compatible with vital functions and detected postnatally. Chromosome structural rearrangements in many cases are unique and only particular ones are more common. The objective of this work was to assess the diversity of chromosome structural rearrangements and their implication to the human genetic. Cytogenetic analysis of karyotype was performed using G-banding and FISH techniques. Cytogenetic analyses of 76 patients using routine cytogenetic analysis and 20 patients using FISH method have been performed. In order to assess the variety of chromosome structural rearrangements, the results of karyotype analyses performed in Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University during the period of 2002–2008 were reviewed. On the basis of obtained results a conclusion can be drawn that translocation is the most frequent chromosome structure rearrangement type, comprising 44,3% of all our cases. X chromosome is the most „vulnerable“ chromosome because different chromosome structural rearrangements including deletion, inversion, isochromosomes, ring and marker of chromosomes X were detected. Balanced chromosome abberations ussually have mild effect, mostly related to the impaired fertility, while unbalanced structural rearrangements of autosomes cause severe and lethal phenotype. Both, routine cytogenetic analysis and FISH method are important in identification of chromosome structural rearrangements. |
