WEBGermline 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.
WEBMay 1, 2023 · Genetic mosaicism is defined as the presence of two or more cell lineages with different genotypes arising from a single zygote in a single individual. In contrast, if distinct cell lines derived from different zygotes, the term is now known as chimerism. Genetic mosaicism is a postzygotic mutation.
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Mosaicism in Human Health and Disease - PMC - National …
WEBNov 11, 2020 · In germline mosaicism (also termed gonadal mosaicism), mutations selectively occur postzygotically in germ cells within the gonads. An individual with gonadal mosaicism may eventually transmit variants to offspring, including sporadic disease-causing mutations.
WEBGermline or gonadal mosaicism is a particular form of mosaicism wherein some gametes—i.e., sperm or oocytes—carry a mutation, but the rest are normal. The cause is usually a mutation that occurred in an early stem cell that gave rise to all or part of the gametes. Somatic mosaicism
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A six-attribute classification of genetic mosaicism
WEBJul 14, 2020 · Gonadosomatic mosaicism has been described in many genetic diseases with either autosomal dominant or X-linked recessive inheritance after the observation of two or more affected siblings...
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Human embryonic genetic mosaicism and its effects on ... - Nature
WEBApr 11, 2024 · In other words, mosaicism refers to any mutation that is acquired in the nuclear genome after the zygote stage of embryogenesis, meaning that the resulting genetic variant is present in some, but...
WEBApr 18, 2013 · Mosaicism refers to the presence of genetically distinct cells within an organism that result from postzygotic mutational events. There are several different types of mosaicism at the...
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Revealing parental mosaicism: the hidden answer to the …
WEBOct 5, 2023 · Mosaicism can be broadly classified as solely somatic, solely gonadal or gonosomal mosaicism [ 2 ]. Mosaicism is commonly found at a variety of levels with variant allele frequencies (VAF) of as low as 0.5% to 3% depending on the detection methods [ 3, 4 ].
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Gonadal mosaicism as a rare cause of autosomal recessive ... - PubMed
WEBGonadal mosaicism is a condition in which a postfertilization mutation is confined to the gamete precursors and is not detected in somatic tissues. Gonadal mosaicism is known to give the impression of autosomal recessive inheritance when recurrence of an autosomal-dominant condition among offspring of phenotypically normal parents is observed.