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• W2155575552 abstract "Trisomy of chromosome 21 (T21; Down syndrome, DS) is the most common aneuploidy in live births. Though its etiology has been intensively studied for a half of century, there are surprisingly many problems awaiting their elucidation. Some of the open questions are related directly to germ line mosaicism for T21, other problems include the prevalence of males with non-mosaic trisomy over females (skewed sex ratio, SR), the genetic predisposition to non-disjunction, etc. Studies in families of gonadal mosaicism (GM) carriers might help resolving some of these problems.80 families of carriers of GM, in which the sex of the offspring had been specified, were identified in the literature and in logbooks of two local genetic units. Mothers in these families were relatively young: only 8% of mothers were 35 years old and older at the time of delivery of their first affected offspring while the proportion of grandmothers on the GM carrier's side aged 35 years old and older was significantly higher (39%). Postzygotic rescue of T21 due to error in the meiosis I had been proposed as a mechanism of parental GM formation in 78% of the families with known origin of the T21. For the other 22%, rescue of errors in the meiosis II or postzygotic mitotic non-disjunction was assumed. Mosaicism for T21 in successive generations was reported in at least 12 families. The proportion of mosaics among affected female offspring (14%) is significantly higher compared to that among affected male offspring (0%). Male preponderance (SR = 1.5) is found in non mosaic liveborn offspring with either maternally- or paternally transmitted T21. Among unaffected offspring of male carriers of GM there is a notable excess of females (SR = 0.27).Both direct (results of cytogenetic and molecular study of the origin of trisomic line) and indirect (advanced grandmaternal age on the side of GM carrier) evidences allow to assume that significant proportion of the mosaic parents had been conceived as trisomics. Female-specific trisomy rescue and genetic predisposition to postzygotic non-disjunction has been suggested as mechanisms of formation of both GM and somatic mosaicism. Typical male preponderance in affected non mosaic offspring with either maternally- or paternally transmitted trisomy 21, indicates than meiotic events are not responsible for the skewed sex ratio in DS. However a female excess among unaffected offspring of male carriers of GM might be the result of meiotic non homologous co-orientation of chromosomes 21 and X in spermatogenesis." @default.
• W2155575552 created "2016-06-24" @default.
• W2155575552 creator A5069595956 @default.
• W2155575552 date "2010-01-01" @default.
• W2155575552 modified "2023-10-15" @default.
• W2155575552 title "Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescue" @default.
• W2155575552 cites W126315102 @default.
• W2155575552 cites W161558297 @default.
• W2155575552 cites W165117583 @default.
• W2155575552 cites W166618768 @default.
• W2155575552 cites W1959228706 @default.
• W2155575552 cites W1964359181 @default.
• W2155575552 cites W1967853679 @default.
• W2155575552 cites W1973841272 @default.
• W2155575552 cites W1976942080 @default.
• W2155575552 cites W1980004702 @default.
• W2155575552 cites W1981335820 @default.
• W2155575552 cites W1983543213 @default.
• W2155575552 cites W1985377589 @default.
• W2155575552 cites W1986602147 @default.
• W2155575552 cites W1998774254 @default.
• W2155575552 cites W2006699932 @default.
• W2155575552 cites W2010447249 @default.
• W2155575552 cites W2014629546 @default.
• W2155575552 cites W2015741941 @default.
• W2155575552 cites W2020422769 @default.
• W2155575552 cites W2024228597 @default.
• W2155575552 cites W2026606870 @default.
• W2155575552 cites W2032577761 @default.
• W2155575552 cites W2033708398 @default.
• W2155575552 cites W2034979189 @default.
• W2155575552 cites W2037183654 @default.
• W2155575552 cites W2039849074 @default.
• W2155575552 cites W2051563408 @default.
• W2155575552 cites W2054508106 @default.
• W2155575552 cites W2056536538 @default.
• W2155575552 cites W2057377356 @default.
• W2155575552 cites W2058508772 @default.
• W2155575552 cites W2059755818 @default.
• W2155575552 cites W2061280608 @default.
• W2155575552 cites W2061923209 @default.
• W2155575552 cites W2068801608 @default.
• W2155575552 cites W2072697462 @default.
• W2155575552 cites W2074364393 @default.
• W2155575552 cites W2085328418 @default.
• W2155575552 cites W2085355500 @default.
• W2155575552 cites W2087906399 @default.
• W2155575552 cites W2092661451 @default.
• W2155575552 cites W2092793064 @default.
• W2155575552 cites W2094810764 @default.
• W2155575552 cites W2097556376 @default.
• W2155575552 cites W2104596017 @default.
• W2155575552 cites W2109482197 @default.
• W2155575552 cites W2111560825 @default.
• W2155575552 cites W2122669238 @default.
• W2155575552 cites W2125741302 @default.
• W2155575552 cites W2136611736 @default.
• W2155575552 cites W2138143724 @default.
• W2155575552 cites W2141224615 @default.
• W2155575552 cites W2160473082 @default.
• W2155575552 cites W2162070425 @default.
• W2155575552 cites W2165500342 @default.
• W2155575552 cites W2170505368 @default.
• W2155575552 cites W2186770490 @default.
• W2155575552 cites W2207883646 @default.
• W2155575552 cites W2322677362 @default.
• W2155575552 cites W2394562448 @default.
• W2155575552 cites W2395537637 @default.
• W2155575552 cites W2396033318 @default.
• W2155575552 cites W2400029843 @default.
• W2155575552 cites W2401030464 @default.
• W2155575552 cites W2411584746 @default.
• W2155575552 cites W2412384934 @default.
• W2155575552 cites W2413001306 @default.
• W2155575552 cites W2419071732 @default.
• W2155575552 cites W2421793927 @default.
• W2155575552 cites W2432438323 @default.
• W2155575552 cites W2462304285 @default.
• W2155575552 cites W2468809881 @default.
• W2155575552 cites W2472229415 @default.
• W2155575552 cites W256319761 @default.
• W2155575552 doi "https://doi.org/10.1186/1755-8166-3-7" @default.
• W2155575552 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2857837" @default.
• W2155575552 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20298592" @default.
• W2155575552 hasPublicationYear "2010" @default.
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