Preferred Label : X inactivation, familial skewed, 1;
Symbol : SXI1;
CISMeF acronym : SXI1;
Type : Phenotype, molecular basis known;
Description : In mammals, the potential imbalance of gene expression for the two X chromosomes in
females is resolved by inactivating one X in all somatic tissues. In the embryo proper,
the process of X inactivation is considered 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. - Genetic Heterogeneity of Skewed
X Inactivation See also SXI2 (300179) for a locus that maps to chromosome Xq25-q26.;
Prefixed ID : #300087;
Origin ID : 300087;
UMLS CUI : C1848138;
Currated CISMeF NLP mapping
- Genes related to phenotype
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
