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Skewed X-chromosome inactivation has been implicated in miscarriages in the past. Recurrent pregnancy loss can be defined as either two or three consecutive lost pregnancies within five months. In most cases, the loss of pregnancy can be attributed to genetic, hormonal, anatomical and immunological problems.
Typically, each X-chromosome is silenced in half of the cells, but this process is skewed when preferential inactivation of a chromosome occurs. It is thought that skewing happens either by chance or by a physical characteristic of a chromosome that may cause it to be silenced more or less often, such as an unfavorable mutation.
Typical XX females undergo X inactivation during which one copy of the X chromosome is silenced. It is thought that X inactivation in XX males may account for the genital ambiguities and incomplete masculinization seen in SRY-positive XX males. [22] [21] The X chromosome with the SRY gene is preferentially chosen to be the active X chromosome ...
Females have two X chromosomes while males have one X and one Y chromosome. Carrier females who have only one copy of the mutation do not usually express the phenotype, although differences in X-chromosome inactivation (known as skewed X-inactivation) can lead to varying degrees of clinical expression in carrier females, since some cells will ...
A carrier female with only one copy of the mutated gene does not often express the diseased phenotype, although X-chromosome inactivation (or skewed X-inactivation), which is common in the female population, may lead to different levels of expression. [15] There are characteristic patterns for X-linked recessive inheritance. [16]
The mosaic pattern of X inactivation may also determine how penetrant a disease is, if the disease allele is present on one X-chromosome and not the other. The organism may have few cells in which the diseased allele has not been condensed, leading to little expression of the disease allele. This is referred to as skewed X-chromosome inactivation.
As the X chromosome is one of the sex chromosomes (the other being the Y chromosome), X-linked inheritance is determined by the sex of the parent carrying a specific gene and can often seem complex. This is due to the fact that, typically, females have two copies of the X-chromosome, while males have only one copy.
In humans, X-chromosome inactivation enables males and females to have an equal expression of the genes on the X-chromosome since females have two X-chromosomes while males have a single X and a Y chromosome. X-chromosome inactivation is random in the somatic cells of the body as either the maternal or paternal X-chromosome can become ...