Such gross somatic mosaicism was not observed in three other lines examined, further emphasizing a role for flanking DNA in modulating repeat stability.
Furthermore, the only abnormal genes were found in abnormal lung and kidney tissue, arguing against genetic mosaicism.
Specifically, in 2% of patients, the mutated TSC gene is not detected in either parent because of germline mosaicism.
somatic mosaicism was not observed in three other lines examined, further emphasizing a role for flanking DNA in modulating repeat stability.
We do occasionally find mosaicism in chorion villous cells obtained by the CVS test at 12 weeks gestation.
Faivre, L., et al. "Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism."
Another feature of fragile X syndrome is that mosaicism is present in 15 to 20 percent of those affected by the condition.
Mosaicism refers to the presence of cells of two different genetic materials in the same individual.
Subsequently, however, researchers concluded that the rare recurrence of OI to a couple with a child with autosomal dominant OI is more likely due to gonadal mosaicism.
An estimated 2 percent to 4 percent of families into which an infant with OI type II is born are at risk of having another affected child because of gonadal mosaicism.
However, it is estimated that 3 to 8 percent of girls with a single X chromosome and 12 to 21 percent of females with sex chromosome mosaicism may have normal pubertal development and spontaneous menstrual periods.
There is no increased risk of either mosaicism or translocation with increased maternal age.
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