Fragile 22q13 segregating in a family.
During the course of a population study of non-specific mental retardation in school-age males, a 13-year-old boy was ascertained. Cytogenetic studies revealed the presence of a fragile site at chromosome 22. The site was found to be both folate-dependent and heritable. The possibility that the presence of this fragile site is linked to mental retardation is discussed.
D000293:Adolescent; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002904:Chromosomes, Human, 21-22 and Y; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male