Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction. Mol Cytogenet. 2017;10:28.Chantot-Bastaraud S, Stratmann S, Brioude F, Begemann M, Elbracht M, Graul-Neumann L, Harbison M, Netchine I, Eggermann T. Formation of upd(7)...
In the past few years, we have made notable advances in finding a 'cure' for Down syndrome-linked intellectual disability based on symptomatic alleviation and individual gene function rescue. Abstract Down syndrome is the most common form of intellectual disability and results from one of the most...
Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism. Prenat Diagn 1998; 18:201-206. 136. James RM, West JD. A chimaeric animal model for confined placental mosaicism. Hum Genet 1994; 93:603-604.
Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue . Prenat Diagn 1998 ; 18 : 659 - 668 .Los F et al (1998) Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue. Prenat Diagn 18:659–668...
Isochromosome 1q as the sole chromosomal abnormality in two fetal teratomas: possible trisomic or tetrasomic zygote rescue in fetal teratoma with an additional isochromosome 1q. Cancer genetics and cytogenetics 1999;115(1):1-10.Scheres, J.M., Pater, J.M., Stoutenbeek, P., Wijmenga, C.,...
trisomic zygote rescueIn the population of children born after prenatal cytogenetic investigation in chorionic villi at our department from 1992 to 1995 ( N =3940), three are known to us with uniparental disomy. One case of maternal heterodisomy 16 was prenatally discovered because of trisomy 16 ...
Thus, the conceptus started as maternal trisomy due to meiotic non-disjunction, and trisomy rescue occurred subsequently through loss of the paternal homologue resulting in maternal uniparental disomy. Normal phenotypes in previous reports have suggested that maternal UPD 22 has no impact on the ...
1997 . Prospective prenatal diagnosis of Prader-Willi syndrome due to maternal disomy for chromosome 15 following trisomic zygote rescue . Prenat Diagn 17 : 780 – 783 .Roberts E, Stevenson K, Cole T, et al.: Prospective prenatal diagnosis of Prader-Willi syndrome due to maternal disomy for ...
Thus, the conceptus started as maternal trisomy due to meiotic non-disjunction, and trisomy rescue occurred subsequently through loss of the paternal homologue resulting in maternal uniparental disomy. Normal phenotypes in previous reports have suggested that maternal UPD 22 has no impact on the ...