X-linked mental retardation and X-chromosome fragile sites (author's transl)

Abstract

One of the commonest forms of mental retardation can now be especially diagnosed by differentiated chromosome analysis: X-linked heritable mental retardation with a fragile site on the X-chromosome. The fragile site on the distal long arm of the X-chromosome in region 2, band 7 (Xq27) is not apparent under normal circumstances of culture but must be provoked by folic acid deficiency in the culture medium. The marker X-chromosome is demonstratable in 4-56% of the metaphases in affected males, whereas the recognition of heterozygote gene carriers is still uncertain. In the hemizygotes the defect is characterised clinically by a usually moderately severe intellectual retardation. The character of the carriers is friendly, and well balanced. Speech development is greatly retarded. Testicular volume beyond puberty is increased. Heterozygote females are usually clinically unremarkable. At times a slight mental retardation has been described.