Hypomelanosis of ito and a `mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism. Ann Genet 2000;43:39- 43.Tunca Y, Wilroy RS, Kadandale JS, Martens PR, Gunther WM, Tharapel AT. Hypomelanosis of ito and a 'mirror image' whole chromosome dupli cation ...
Mosaicism was observed at a level as low as 25%. Conclusions: Patients with chromosomal diseases or microdeletion/microduplication syndromes were diagnosed using a high-resolution genome-wide method. Our study revealed the potential of NGS to facilitate genetic diagnoses that were not evident in the...
To control the bias of aneuploidy in the CI estimation, chromosome(s) with coverage higher than 1.15x or lower than 0.85x of the genome coverage in a sample were excluded from downstream analysis. Similarly, to mitigate bias from gene copy number variants (CNVs), SNPs in genes with coverage...
of the aberration (i.e. genome-wide, chromosomal, or sub-chromosomal), (iii) the parental origin of the aberration (i.e. paternal or maternal), (iv) the segregational origin of the aberration (i.e. meiosis I, meiosis II, or mitosis), and (v) the degree (> 10%) of mosaicism....
Mosaicism was observed at a level as low as 25%. Conclusions: Patients with chromosomal diseases or microdeletion/ microduplication syndromes were diagnosed using a high-resolution genome-wide method. Our study revealed the potential of NGS to facilitate genetic diagnoses that were not evident in ...
“rescued” to a diploid state by losing one of the excess chromosomes to either restore chromosomal balance or causeuniparental disomy. Our findings suggest that meiotictrisomyrescue may also occurin vitro, providing a unique opportunity to explore the biology of a process that cannot be readily ...
5.3 Mb duplication on 9p24), 2) different regions with deletions/duplications/loss of heterozygosity on 1p in all samples (prenatal: mosaic 2.3 Mb 1p36 duplication), and 3) mosaicism for a duplication on 5q and a deletion on 6p in one out of five samples (prenatal: mosaic trisomy 7). ...
TRISOMYMOSAICISMCHROMOSOME abnormalitiesDEVELOPMENTAL delayGENETIC testingPRECOCIOUS pubertyWHOLE genome sequencingNEWBORN infantsMaternal uniparental disomy of chromosome 14, upd(14)mat, leads to Temple syndrome (TS), an imprinting disorder characterized by pre‐ and postnatal growth retardation, h...
TrisomyMiscarriageCNVsTriploidyMosaicismNGSObjective: Chromosome aberrations are generally coHongAnnordXuanAnnordZhao-LingAnnordYangAnnordCaiAnnordLi-RongAnnordZhangAnnordHanAnnordWenAnnordXiao-HuiAnnordEuropean Journal of Obstetrics, Gynecology and Reproductive Biology: An International Journal...
1A. In one case, a false negative was observed (GM01359, called euploid but expected 47,XY,+18), and in two cases there was a false positive aneuploid chromosome (GM07227 and GM04626, incorrectly called trisomy 6 and 3, respectively). A result was obtained in 46 of 48 (95.5%) ...