Trichion

Trichion is a special deformation of human chromosomes that can be considered a genetic disease. Some trichions are born only in Russia, but are also found in other countries.

Trichion, as a binary polygene, forms 25, XO or 46XY karyotypes in humans, which indicates the greater complexity of this atypical disorder. In preimplantation diagnostics, liminal changes were identified on 8 chromosomes: 3, 7, 9, 11, 14, 21, 30, 40. However, there are also cases of more local damage. In 50% of cases, disorders of trichinosis clones occur on chromosomes 1 and 6 in combination with additional indicators, such as deletions of the short arm of chromosomes 15, 16, 19, large trisomy 1, short (up to monosomy). Hypermorphic undifferentiated clones are present in different karyotypes. Monosomy on one of the autosomes of chromosomes from 17 to 20 is already the beginning. The pathogenesis of homozygous forms is discussed as a clonal response, which is manifested by a decrease in enzyme