Preferred Label : X inactivation, familial skewed, 2;
Symbol : SXI2;
CISMeF acronym : SXI2;
Type : Phenotype or locus, molecular basis unknown;
Description : In mammals, the potential imbalance of gene expression for the two X chromosomes in
females is resolved by inactivating one X in all the somatic tissues. In the embryo
proper, the process of X inactivation is believed to be random between the maternal
and paternal chromosomes. Thus, most females have mosaic expression of maternal and
paternal alleles of X chromosome loci, with a contribution of about 50% from each
chromosome. However, some females show a skewed ratio of X inactivation, which can
be due to negative or positive selection, or to an underlying primary genetic process.
Belmont (1996) observed familial clustering of females with highly skewed patterns
of X inactivation and reviewed the genetic control of X inactivation. See also SXI1
(300087), due to mutation in the XIST gene (314670) on chromosome Xq13.2.;
Prefixed ID : %300179;
Origin ID : 300179;
UMLS CUI : C1846257;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
