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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.
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 .
"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).
Trisomic rescue (also known as trisomy rescue or trisomy zygote rescue) is a genetic phenomenon in which a fertilized ovum containing three copies of a chromosome loses one of these chromosomes (anaphase lag) to form a diploid chromosome complement. [1] If both of the retained chromosomes come from the same parent, then uniparental disomy ...
About 50% of cases involve mosaicism, which affects the severity of the condition. The frequency is approximately 3-4 per 10,000 people, and 1 in 300 people with intellectual disability. [2] Marker chromosomes typically occur in addition to the standard 46 chromosomes, making it a partial trisomy or tetrasomy supernumerary chromosome. [4]
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.
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.
Of all trisomy 21 pregnancies, approximately 80% end in spontaneous abortions or still-births. 1–5% of people diagnosed with having Down Syndrome are actually in fact "high-grade" trisomy 21 mosaics. The rest of trisomy 21 mosaics are marked as "low-grade" mosaics, meaning the chromosomal mutation occurs in less than 3–5% of respective tissue.