Human chromosome polymorphism and congenital malformations.
Several authors have suggested that heterochromatin polymorphism influences the origin and/or development of different malformations. In this investigation special consideration was given to the A1qh + variant. Several families with this variant are reported in which the incidence of otherwise rare malformations is surprisingly high. The possibility that the A1qh+ varient or, more probably, interactions between all types of heterochromatin polymorphism are of pathogenetic significance is considered.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002900:Chromosomes, Human, 1-3; D002901:Chromosomes, Human, 13-15; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D014644:Genetic Variation; D006570:Heterochromatin / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic; D012730:Sex Chromosomes
D006570:Heterochromatin