Osteopathia striata cranial sclerosis: non-random X-inactivation
suggestive of X-linked dominant inheritance.
patterns of female carriers were investigated by studying the polymorphic trinucleotide (CAG) repeats in the first exon of the human androgen receptor gene as reported previously .
The recurrent risk of the same chromosomal abnormality is difficult to identify because it depends on the type of disjunction and X-inactivation
Milder findings in the female can be attributed to differences in expression of the mutated allele caused by skewed X-inactivation
. Somatic mosaicism in the boy was supported by 8-lathosterol accumulation being less than expected in affecteds.
Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome due to nonrandom X-inactivation
. In this article, we describe a healthy 15.5-year-old girl with primary amenorrhea, gonadal dysgenesis, and tall stature without other manifestations of the Turner syndrome.
Researchers named these good genes "EXITS" (Escape from X-Inactivation
Patient-derived iPS cells are expected to be useful for disease modeling, but the effects of reprogramming by Yamanaka factors on X-inactivation
in female iPS cells remain controversial.
(6,15) Historically, skewed X-inactivation
was the accepted mechanism for the development of symptoms in carriers.
Due to non-random X-inactivation
, the majority of X; autosome carriers that present with abnormal phenotypes include multiple congenital abnormalities, developmental delay, a recognizable X-linked syndrome or gonadal dysgenesis (3).
In a normal female cell, there are two copies of the X chromosome; however, only one copy is active, because the other copy is "silenced" through a process called X-inactivation
X-inactive-specific transcript (XIST) expression and X-inactivation
in the preattachment bovine embryo.