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Full trisomy 9 is a rare and fatal chromosomal disorder caused by having three copies of chromosome number 9.It can be a viable condition if the trisomic component affects only part of the cells of the body or in cases of partial trisomy of the short arm (trisomy 9p) in which cells have a normal set of two entire chromosomes 9 plus part of a third copy of the short arm ("p") of the chromosome.
Diploid-triploid mosaicism is a human chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). [1]
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 ...
Triploid syndrome, also called triploidy, is a chromosomal disorder in which a fetus has three copies of every chromosome instead of the normal two. If this occurs in only some cells, it is called mosaic triploidy and is less severe.
"Molecular cytogenetic detection of confined gonadal mosaicism in a conceptus with trisomy 16 placental mosaicism". American Journal of Human Genetics. 63 (6): 1912– 4. doi:10.1086/302149. PMC 1377663. PMID 9837845. Van Opstal D, Van den Berg C, Deelen WH, et al. (January 1998). "Prospective prenatal investigations on potential uniparental ...
L1 retrotransposition can happen also in somatic cells causing mosaicism (SLAVs – L1-associated variations) and in cancer. Retrotransposition is a copy and paste process in which the RNA template is retrotranscribed in DNA and integrated randomly in the genome. In humans there are around 500.000 copies of L1 and occupy 17% of genome.
She and Doyle had genetic testing done, and were told that the fetus had tested positive for trisomy 21, a type of Down syndrome, a condition in which individuals have an extra copy of a chromosome.
In humans this may refer to: 45, X, also known as Turner syndrome; 45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis; 46, XX/XY; 47, XXX, also known as trisomy X or triple X syndrome; 47, XXY, also known as Klinefelter syndrome; 47, XYY, also known as Jacobs syndrome; 48, XXXX, also known as tetrasomy X; 48, XXXY ...