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Gonosomal mosaicism is a type of somatic mosaicism that occurs very early in the organisms development and thus is present within both germline and somatic cells. [1] [22] Somatic mosaicism is not generally inheritable as it does not usually affect germ cells. In the instance of gonosomal mosaicism, organisms have the potential to pass the ...
An application of the study of somatic mosaicism in the brain could be the tracing of specific brain cells. Indeed, if the somatic L1 insertions occurs in a progenitor cell, the unique variant could be used to trace the progenitor cell's development, localization, and spreading through the brain. On the contrary, if the somatic L1 insertion ...
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. Germline mosaicism can be present at the same time as somatic mosaicism or ...
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]
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]
As a result, the individual is considered to be a mosaic of normal and abnormal cells. [7] Mosaicism is the occurrence of two or more cell lines with different genotypes within a single individual. It is different from chimerism which is the fusion of two zygotes, causing a new single zygote with two genotypes. [7]
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.
Alfred Blaschko, a private practice dermatologist from Berlin, first described and drew the patterns of the lines of Blaschko in 1901. He obtained his data by studying over 140 patients with various nevoid and acquired skin diseases and transposed the visible patterns the diseases followed onto dolls and statues, then compiled the patterns onto a composite schematic of the human body.