정상변이 염색체 다형현상과 동반된 저신장증

Abstract

Chromosomal polymorphism of constitutive heterochromatin regions of chromosome 1, 9, 16, and Y is a stable evolutionary feature that is thought to cause no phenotypic alterations. The presence of definite ethinic and age-related peculiarities of chromosomal polymorphism variants was established. Some authors reported the relationship of the separate variants with the phenotypic characteristics, such as reproductive function, physiological and anthropometric indices, and oncological diseases. Nevertheless, the role of constitutive heterochromatin is still unknown. We experienced and reported short children associated with polymorphisms in chromosme 1qh+ and 16qh+.