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Mosaicism or genetic mosaicism is a condition in which a multicellular organism possesses more than one genetic line as the result of genetic mutation. [ 1 ] [ 2 ] This means that various genetic lines resulted from a single fertilized egg .
Germline mosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells; conversely, somatic mosaicism is a type of genetic mosaicism found in somatic cells.
46,XX/46,XY chimeric or mosaic is associated with a wide spectrum of different physical presentations, with cases ranging from having a completely normal male or female phenotype [7] [8] [9] to some cases having ovotesticular syndrome. Due to this variation, genetic testing is the only way to reliably make a diagnosis. [11] [12] [13] [6]
Sonja Rasmussen, M.D., professor of genetic medicine at the Johns Hopkins University School of Medicine, explains how Down syndrome and mosaic Down syndrome differ. “Typically, we all have 46 ...
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, [1] is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is a fairly rare chromosomal disorder at birth, with an estimated incidence rate of about 1 in 15,000 live births. [2]
The pregnancy loss rate in pregnancies with confined placental mosaicism, diagnosed by chorionic villus sampling, is higher than among pregnancies without placental mosaicism. It may be that sometimes the presence of significant numbers of abnormal cells in the placenta interferes with proper placental function.
Occurrence of this phenomenon not only can result in major phenotypic changes but also reveal the expression of otherwise lethal genetic mutations. [3] Genetic mutations involved in mosaicism may be due to endogenous factors, such as transposons and ploidy changes, or exogenous factors, such as UV radiation and nicotine. [4]
It can be difficult to pinpoint the exact reason why skin tags crop up, but we do know a mix of genetic and lifestyle factors are probably responsible for their formation, says Dr. Hayley Goldbach ...