Chromosome one polymorphism in a girl with the Chediak-Higashi syndrome.
In a girl with the Chediak-Higashi syndrome, a remarkable polymorphism of chromosome number one was identified by G and C banding. The association of the polymorphisms of constitutive heterochromatin with abnormal phenotypes is discussed. It is suggested that further cytogenetic studies might be performed in humans and animals with this rare autosomal recessive disorder in order to confirm the present findings.
D000293:Adolescent; D002609:Chediak-Higashi Syndrome / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D011110:Polymorphism, Genetic