Significats de somatic mosaicism en anglès

One father exhibited somatic mosaicism for the mutation detected in his son.

In two patients studied, somatic mosaicism was proven by molecular and cellular cloning, respectively.

When biopsied, this skin revealed somatic mosaicism resulting in the self-correction of C7 deficiency.

In 1 patient, somatic mosaicism was demonstrated by molecular analysis of DNA and RNA from peripheral blood.

Two patients harboured somatic PIK3CA mutations, and the level of somatic mosaicism in blood DNA was low.

Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism.

Electrophoresis and direct sequencing conducted on RNA permitted to detect two different amplicons of cDNAs, demonstrating the presence of somatic mosaicism.

The presence of both germ-line and somatic mosaicism indicates that the mutation occurred prior to segregation of the germ-line and somatic cell progenitors.

We report the analysis of a pair of generally healthy female MZ twins, discordant for somatic mosaicism for aneuploidy of chromosomes X and Y.

A relatively favorable cognitive outcome in patients with Dravet syndrome patients may be explained by somatic mosaicism for the SCN1A mutation in brain tissue.

We highlight the importance of detailed genetic testing, testing method, and counseling for cases of somatic mosaicism in an unaffected parent of children with GAND.

The syndrome and somatic mosaicism in patients were confirmed by the identification of gain-of-function mutations in the EPAS1 gene in resected tumors and other tissues.

The failure to detect germline VHL mutations in some patients with multiple HAB may indicate the presence of somatic mosaicism or additional HAB susceptibility genes.

Next-generation sequencing (NGS) methods have enabled better detection of somatic mosaicism compared to conventional Sanger sequencing; however, mosaics can still be difficult to detect.

Somatic mosaicism for DNA copy-number alterations (SMC-CNAs) is defined as gain or loss of chromosomal segments in somatic cells within a single organism.