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X-linked recessive

Definition(s)

A mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males who are hemizygous for the gene mutation (i.e., they have only one X chromosome) and in females who are homozygous for the gene mutation (i.e., they have a copy of the gene mutation on each of their two X chromosomes). Carrier females who have only one copy of the mutation do not usually express the phenotype, although differences in X-chromosome inactivation can lead to varying degrees of clinical expression in carrier females

Definition from: GeneReviewsThis link leads to a site outside Genetics Home Reference. from the University of Washington and the National Center for Biotechnology Information

Related discussion in the Handbook

See also Understanding Medical Terminology.

 
Published: July 21, 2014