Cytogenetic techniques in current biomedical research. PART III: numerical alterations of human karyotype

Numerical abnormalities of karyotype are the result genome mutations. Unlike gene and chromosomal abnormalities, mutations do not disrupt structure DNA or chromosomes. The cause numerical changes in is a violation mechanism chromosome segregation during meiosis mitosis. Like other mutations, natural for increasing genetic diversity offspring. At same time, humans usually have negative effects any deviations from norm, this reason, cytogenetic examination aneuploidies an important diagnostic tool medical genetics.A change number sex chromosomes lethal. spectrum detected carrier inconstant impairment reproduction but normal phenotype to malformations some internal organs, infertility severe intellectual disabilities. Aneuploidies autosomes always threat life health. Only autosomal trisomies on 13, 18, 21 22 compatible with live birth, there solitary reports birth children polyploidies. prognosis relatively favorable only case trisomy 21, leading formation Down syndrome. Other lead spontaneous termination pregnancy early stages discovered samples abortion material.In regard, analysis used establish anomalies postnatal period, delays speech psychomotor development, disorders adults. Of particular importance embryos prenatal period. proposed lecture analyzes genomic their diversity. possible consequences presence various types considered. To reader attention offered syndromes associated karyotype. description illustrated by real images patient karyotypes.The aimed primarily at students biological specialties, young specialists who plan use research methods practical activities, doctors faced need analyze interpret results analysis. assimilate material under discussion, it recommended familiarize yourself previous cycle.