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Mosaicism or genetic mosaicism is a condition in which a ... a loss of the Y chromosome can result in XY/X mosaic males. [18] An example of this is one of ...
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.
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]
Somatic mosaicism has been noted in the heart. Sequencing suggested mosaic variation in the gap junction protein connexin in three patients out of 15 might contribute to atrial fibrillation [24] although subsequent reports in larger numbers of patients found no examples among a large panel of genes. [25]
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 ...
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]
Mosaic evolution (or modular evolution) is the concept, mainly from palaeontology, that evolutionary change takes place in some body parts or systems without simultaneous changes in other parts. [1] Another definition is the "evolution of characters at various rates both within and between species".
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]