ライフサイエンスコーパス: trisomy

1 not the basis for the maternal-age effect on trisomy.

2 sage of the Ets2 tumor repressor gene due to trisomy.

3 control (euploid) animals that did not have trisomy.

4 osis can thus partially correct pre-existing trisomy.

5 Trisomy 12 (87%) and NOTCH1 mutations (62%) characterize

6 subsequent appearance of a clone containing trisomy 12 and chromosome 10 copy-neutral loss of hetero

7 ubgroup was characterized by the presence of trisomy 12 and comprised one third of the cases.

8 findings demonstrate the extensive effect of trisomy 12 and highlight its perils for successful hPSC

9 CH1 transcript levels, and all patients with trisomy 12 and indicate HH-blocking Abs to be favorable

10 ain variable gene (IGHV) mutation status and trisomy 12 as the most important modulators of response

11 uced expression of CD11a, CD11b, and CD18 in trisomy 12 cases with NOTCH1 mutations compared with wil

12 Trisomy 12 cells also exhibit upregulation of intracellu

13 ing, we demonstrated that, although CD49d(+)/trisomy 12 CLL almost completely lacked methylation of t

14 different cytogenetic groups, we report that trisomy 12 CLL almost universally expressed CD49d and we

15 1.9% NOTCH1 mutation frequency in aggressive trisomy 12 CLL cases.

16 Here, we demonstrate that circulating trisomy 12 CLL cells also have increased expression of t

17 In conclusion, trisomy 12 CLL cells exhibit functional upregulation of

18 Circulating trisomy 12 CLL cells have increased expression of the in

19 icance, but the increased CD38 expression in trisomy 12 CLL cells must be taken into account in this

20 d methylation of the CD49d gene, CD49d(-)/no trisomy 12 CLL were overall methylated, the methylation

21 lp explain the clinicobiological features of trisomy 12 CLL, including the high rates of cell prolife

22 s a critical role in IGVH unmutated/ZAP70(+) trisomy 12 CLL.

23 All trisomy 12 CLLs displayed constitutive HH pathway activa

24 uenced NOTCH1 in an additional 77 cases with trisomy 12 CLLs, including 47 IGVH unmutated/ZAP70(+) ca

25 Furthermore, trisomy 12 increases the tumorigenicity of hPSCs in vivo

26 ing 17p deletion, whereas in those harboring trisomy 12 only high expression of the miR-181a, among t

27 Global gene expression analyses reveal that trisomy 12 profoundly affects the gene expression profil

28 screen of 89 anticancer drugs discovers that trisomy 12 raises the sensitivity of hPSCs to several re

29 tween diploid and aneuploid hPSCs shows that trisomy 12 significantly increases the proliferation rat

30 immunoglobulin heavy chain variable gene and trisomy 12 were independently associated with MRD-negati

31 discriminate the 11q deletion, 17p deletion, trisomy 12, 13q deletion, and normal karyotype cytogenet

32 ercent of patients with del(11q), 94.7% with trisomy 12, 37.5% with del(17p), and 89.4% with unmutate

33 linked the B cell receptor (BCR) pathway to trisomy 12, an important driver of CLL.

34 ations as predominantly clonal (e.g., MYD88, trisomy 12, and del(13q)) or subclonal (e.g., SF3B1 and

35 ta-2-microglobulin, were more likely to have trisomy 12, and less likely to have deletion 17p.

36 ations correlated with unmutated IGHV genes, trisomy 12, high CD38/ ZAP-70 expression and were associ

37 Because 4 of 6 mutated samples also showed trisomy 12, we sequenced NOTCH1 in an additional 77 case

38 PTCH1 transcript levels and the presence of trisomy 12, whereas no other karyotype correlated with r

39 n heavy chain genes, deletion 17p or 11q, or trisomy 12.

40 ion have a good prognosis, and 4 of 6 have a trisomy 12.

41 linked to presence of chromosomal anomalies (trisomy-12 or ataxia telangiectasia mutated anomaly + de

42 outputs are calls for aneuploidy, including trisomies 13, 18, 21 and monosomy X as well as fetal sex

43 In acute myeloid leukemia (AML), isolated trisomy 13 (AML+13) is a rare chromosomal abnormality wh

44 The cohorts included 174 children with trisomy 13 (mean [SD] birth weight, 2.5 [0.7] kg; 98 [56

45 ng prenatal diagnosis of trisomy 18 (T18) or trisomy 13 (T13) and to advocate PCC in the care of thes

46 (DLD1+7 and DLD1+13), as well as euploid and trisomy 13 amniocytes (AF and AF+13).

47 Trisomy 13 and 18 are genetic diagnoses with characteris

48 Forty-one children (23.6%) with trisomy 13 and 35 children (13.8%) with trisomy 18 under

49 y of 70.7% (95% CI, 54.3%-82.2%; n = 23) for trisomy 13 and 68.6% (95% CI, 50.5%-81.2%; n = 29) for t

50 ]) survival times were 12.5 (2-195) days for trisomy 13 and 9 (2-92) days for trisomy 18.

51 Furthermore, cells with trisomy 13 displayed a distinctive cytokinesis failure p

52 lation of SPG20 expression, brought about by trisomy 13 in DLD1+13 and AF+13 cells, is sufficient for

53 Among children born with trisomy 13 or 18 in Ontario, early mortality was the mos

54 nd March 31, 2012, with a diagnosis code for trisomy 13 or 18 on a hospital record in the first year

55 Ten-year survival for trisomy 13 was 12.9% (95% CI, 8.4%-18.5%) and 9.8% (95%

56 Mean 1-year survival for trisomy 13 was 19.8% (95% CI, 14.2%-26.1%) and 12.6% (95

57 Median age at first surgery for trisomy 13 was 92 (IQR, 30.5-384.5) days and for trisomy

58 the time of diagnosis of the trisomy 18 and trisomy 13, parents and care providers face difficult an

59 In human trisomy 13, there is delayed switching and persistence o

60 Moreover, we identified a trisomy 13-specific mitotic phenotype that is driven by

61 for trisomy 21, 2 for trisomy 18, and 1 for trisomy 13; negative predictive value, 100% [95% confide

62 worsened the prognosis of patients, whereas trisomy 15 and monosomy 14 were found to have a protecti

63 and standard screening to assess the risk of trisomies 18 and 13.

64 FAS), chromosomal abnormalities that include trisomies 18 and 21, Turner syndrome.

65 g; 98 [56.3%] female); and 254 children with trisomy 18 (mean birth weight, 1.8 [0.7] kg; 157 [61.8%]

66 f counseling regarding prenatal diagnosis of trisomy 18 (T18) or trisomy 13 (T13) and to advocate PCC

67 he literature on the outcome of infants with trisomy 18 and 13 and to discuss the key themes in this

68 h to counseling families of the newborn with trisomy 18 and 13 at the time of diagnosis.

69 ctual experience of parents of children with trisomy 18 and 13 has been limited until recently.

70 which support and advocate for children with trisomy 18 and their families.

71 E OF REVIEW: At the time of diagnosis of the trisomy 18 and trisomy 13, parents and care providers fa

72 prolonging the life of any infant/child with trisomy 18 are not defensible.

73 that the prognosis for infants/children with trisomy 18 is not as 'hopeless' as was once asserted.

74 However, case series of patients with trisomy 18 managed with a goal of prolonging life are no

75 om nonintervention for infants/children with trisomy 18 toward management to prolong life.

76 with trisomy 13 and 35 children (13.8%) with trisomy 18 underwent surgeries, ranging from myringotomy

77 cases of aneuploidy (5 for trisomy 21, 2 for trisomy 18, and 1 for trisomy 13; negative predictive va

78 omy 13 was 92 (IQR, 30.5-384.5) days and for trisomy 18, it was 205.5 (IQR, 20.0-518.0) days.

79 r trisomy 21, P<0.001; and 0.2% vs. 0.6% for trisomy 18, P=0.03).

80 evolving management of infants/children with trisomy 18, the prognosis with and without medical inter

81 ealthcare management plans for newborns with trisomy 18.

82 and 68.6% (95% CI, 50.5%-81.2%; n = 29) for trisomy 18.

83 2%-26.1%) and 12.6% (95% CI, 8.9%-17.1%) for trisomy 18.

84 5) days for trisomy 13 and 9 (2-92) days for trisomy 18.

85 .4%-18.5%) and 9.8% (95% CI, 6.4%-14.0%) for trisomy 18.

86 .2% for trisomy 21 and 40.0% versus 8.3% for trisomy 18.

87 nd deletions, translocations, mosaicism, and trisomy 20 diagnosed by metaphase karyotype.

88 tions, duplications, translocations, and the trisomy 20 were detected blindly by MPS, including a mic

89 positive predictive values for detection of trisomies 21 and 18 than standard screening.

90 e false positive rates of detection of fetal trisomies 21 and 18 with the use of standard screening a

91 For trisomies 21 and 18, the false positive rates with cfDNA

92 cluding amniotic fluid RNA from fetuses with trisomies 21 and 18, umbilical cord blood, and blood fro

93 sitive rates of 0.09%, <0.01%, and 0.08% for trisomies 21, 18, and 13, respectively.

94 age-adjusted chance of carrying a fetus with trisomy 21 (58.7% vs 46.1%; OR, 1.66 [95% CI, 1.22-2.28]

95 ver-operating-characteristic curve (AUC) for trisomy 21 (Down's syndrome) with cfDNA testing versus s

96 uses early-onset Alzheimer's disease (AD) in trisomy 21 (DS).

97 Trisomy 21 (T21) causes Down syndrome (DS), but the mech

98 We observed that trisomy 21 (T21) causes increased production of haemogen

99 equences of dosage imbalance attributable to trisomy 21 (T21) has accelerated because of recent advan

100 TBs, we demonstrated that differentiation of trisomy 21 (T21) hPSCs recapitulates the delayed CTB mat

101 B-cell leukemia in Down syndrome implicates trisomy 21 (T21) in perturbing fetal hematopoiesis.

102 Trisomy 21 (Ts21) affects craniofacial precursors in ind

103 Individuals with full or partial Trisomy 21 (Ts21) present with clinical features collect

104 Transcriptome analysis revealed that trisomy 21 activates the interferon transcriptional resp

105 Trisomy 21 affects virtually every organ system and resu

106 tandard screening were 45.5% versus 4.2% for trisomy 21 and 40.0% versus 8.3% for trisomy 18.

107 gnancy that is defined by the combination of trisomy 21 and a GATA1 mutation.

108 d by the large number of genes duplicated in Trisomy 21 and a lack of understanding of the effect of

109 cated protein (GATA1s), suggesting that both trisomy 21 and GATA1 mutations are required for leukemog

110 GATA1 mutations and trisomy 21 are inextricably linked in the neonatal leuke

111 ears, including the t(1;22)(p13;q13) and the trisomy 21 associated with GATA1 mutations.

112 nce of multilineage myeloid hematopoiesis in trisomy 21 at the fetal liver stage.

113 S-AMKL requires not only the presence of the trisomy 21 but also that of GATA1 mutations.

114 high-throughput whole sequencing data, that trisomy 21 can be detected in a minor ('fetal') genome w

115 Trisomy 21 causes Down syndrome (DS), but the mechanisms

116 Although it is clear that trisomy 21 causes Down syndrome, the molecular events ac

117 Trisomy 21 causes skeletal alterations in individuals wi

118 Trisomy 21 cells show increased induction of interferon-

119 irments in early brain development caused by trisomy 21 contribute significantly to memory deficits i

120 e DNA methylation changes can be detected in trisomy 21 fetal liver mononuclear cells, prior to the a

121 ases JAK1 and TYK2 suppress proliferation of trisomy 21 fibroblasts, and this defect is rescued by ph

122 atal-screening population, cfDNA testing for trisomy 21 had higher sensitivity, a lower false positiv

123 About half of people with trisomy 21 have a congenital heart defect (CHD), whereas

124 cluding cancer and genetic disorders such as trisomy 21 in Down's syndrome.

125 signaling cascade consistently activated by trisomy 21 in human cells.

126 h an increased risk of aneuploidy, including Trisomy 21 in humans.

127 tructurally normal heart, demonstrating that trisomy 21 is a significant risk factor but is not causa

128 Trisomy 21 is associated with hematopoietic abnormalitie

129 genomic basis for Down syndrome (DS), human trisomy 21 is the most common genetic cause of intellect

130 Trisomy 21 is the most frequent genetic cause of cogniti

131 females with DS yet the specific effects of trisomy 21 on the skeleton remain poorly defined.

132 has been hypothesized to be involved in many Trisomy 21 phenotypes including skeletal abnormalities.

133 that GEDDs may therefore contribute to some trisomy 21 phenotypes.

134 Human trisomy 21 pluripotent cells of various origins, human e

135 Additionally, human megakaryocytes with trisomy 21 show increased proliferation and decreased NF

136 er understand the functional contribution of trisomy 21 to leukemogenesis, we used mouse and human ce

137 The AUC for trisomy 21 was 0.999 for cfDNA testing and 0.958 for sta

138 Trisomy 21 was detected in 38 of 38 women (100%; 95% con

139 for age Z score, whereas age, ethnicity, and trisomy 21 were associated with body-mass index for age

140 s 3 and 5 significantly improved OS, whereas trisomy 21 worsened OS.

141 nset dementia observed in Down syndrome (DS; trisomy 21) and the dementia component of myotonic dystr

142 iduals with Down syndrome (DS; also known as trisomy 21) have a markedly increased risk of leukemia i

143 Down syndrome (trisomy 21) is the most common genetic cause of intellec

144 r caused by a third chromosome 21 in humans (Trisomy 21), leading to neurological deficits and cognit

145 presence of an extra maternal chromosome 21 (trisomy 21), which comprises the Kcnj6 gene (GIRK2).

146 idates in the pathogenesis of Down syndrome (trisomy 21)-associated transient myeloproliferative diso

147 CR incidence in children with Down syndrome (trisomy 21).

148 ting detected all cases of aneuploidy (5 for trisomy 21, 2 for trisomy 18, and 1 for trisomy 13; nega

149 nalyzed transcriptome data from fetuses with trisomy 21, age and sex-matched euploid controls, and em

150 ntributes to many of the clinical impacts of trisomy 21, and that interferon antagonists could have t

151 f PAH, ex-prematurity, WHO functional class, trisomy 21, and time since diagnosis were associated wit

152 sess the perturbations of gene expression in trisomy 21, and to eliminate the noise of genomic variab

153 nd human induced pluripotent stem cells with trisomy 21, as well as cancer cells.

154 -segregation leading to aneuploid, including trisomy 21, daughters, which is prevented by LiCl additi

155 founding GATA1 mutation that cooperates with trisomy 21, followed by the acquisition of additional so

156 pression changes and cellular pathologies of trisomy 21, free from genetic and epigenetic noise.

157 Down syndrome (DS), or trisomy 21, is a common disorder associated with several

158 disorder (TMD), restricted to newborns with trisomy 21, is a megakaryocytic leukemia that although l

159 Down syndrome (DS), trisomy 21, is a multifaceted condition marked by intell

160 Down syndrome (DS), caused by trisomy 21, is the most common chromosomal disorder asso

161 Down syndrome (DS), or Trisomy 21, is the most common genetic cause of cognitiv

162 Down syndrome (DS), caused by trisomy 21, is the most common genetic cause of intellec

163 Trisomy 21, or Down syndrome (DS), is the most common ge

164 Trisomy 21, or Down's syndrome (DS), is the most common

165 e with standard screening (0.3% vs. 3.6% for trisomy 21, P<0.001; and 0.2% vs. 0.6% for trisomy 18, P

166 In patients with trisomy 21, similar somatic GATA1s-producing mutations p

167 Patients with Down syndrome (trisomy 21, T21) have hematologic abnormalities througho

168 d an oncomiR involved in the pathogenesis of trisomy 21-associated megakaryoblastic leukemia.

169 lus rhamnosus in an 11-month-old female with trisomy 21.

170 thers with knowledge that their offspring is trisomy 21.

171 id neoplasms of patients with constitutional trisomy 21.

172 m a pair of monozygotic twins discordant for trisomy 21.

173 of fetal origin, mutated GATA1 (GATA1s), and trisomy 21.

174 the neurocognitive deficits associated with Trisomy 21.

175 non-diseased controls that were unrelated to trisomy 21.

176 t of DNA in centromere 21 is associated with trisomy 21.

177 Children with trisomy 21/Down syndrome (DS) are at high risk to develo

178 Significantly, trisomy 21/Down syndrome patients develop early onset AD

179 Most frequent chromosomal aberrations were trisomy 22 (18%) and trisomy 8 (16%).

180 rvival, FLT3 mutation (HR = 2.56; P = .006), trisomy 22 (HR = 0.45; P = .07), trisomy 8 (HR = 2.26; P

181 .04], log(10)(WBC) (HR = 1.33; P = .02), and trisomy 22 (HR = 0.54; P = .08) were relevant factors fo

182 8 (P = .01) and 21 (P < .001) and less often trisomy 22 (P = .02).

183 les showed responses of greater magnitude to trisomy 2L, suggesting that the genes involved in dosage

184 Genetic aberrations, including trisomies 3 and 18, and well-defined IGH translocations,

185 d overall survival (OS) in myeloma patients: trisomies 3 and 5 significantly improved OS, whereas tri

186 In patients with t(4;14), trisomies 3 and/or 5 seemed to overcome the poor prognos

187 of the primary tumor, 2 had disomy 3, 1 had trisomy 3, and 3 had insufficient material for FISH.

188 sions ETV6-RUNX1 (2.5% vs 24%, P < .001) and trisomies 4 and 10 (7.7% vs 24%, P < .001).

189 LL translocations, BCR-ABL1, ETV6-RUNX1, and trisomies 4 and 10 were excluded, the EFS and OS were si

190 , chr6q deletions, chr3q amplifications, and trisomy 4 are also described.

191 During the excretory phase, ccRCCs with trisomy 5 enhanced more than those without this anomaly

192 the TAL/LMO subtype of T-ALL (P = .018) and trisomies 6 (P < .001) and 7 (P < .001).

193 extra copy of single chromosomes, including trisomy 6, 8, 11, 12, or 15.

194 (60%), gain of 5q (33%), loss of 14q (28%), trisomy 7 (26%), loss of 8p (20%), loss of 6q (17%), los

195 We have previously characterized a trisomy 7 cell line (1CT+7) spontaneously derived from n

196 130.0 vs 102.5 HU, P = .04), and ccRCCs with trisomy 7 enhanced less than those without this anomaly

197 ll line DLD1 (2n = 46) and two variants with trisomy 7 or 13 (DLD1+7 and DLD1+13), as well as euploid

198 osomal aberrations were trisomy 22 (18%) and trisomy 8 (16%).

199 M5 morphology, and frequently had additional trisomy 8 (39.6%; P < .001).

200 P = .006), trisomy 22 (HR = 0.45; P = .07), trisomy 8 (HR = 2.26; P = .02), age (difference of 10 ye

201 by way of complex karyotype (n = 41) or sole trisomy 8 (n = 21).

202 duplication of the BCR-ABL1 gene (n = 8) and trisomy 8 (n = 3), recurrent submicroscopic alterations,

203 cohort, TERT mutations were associated with trisomy 8 and inversion 16.

204 , we found that human myeloid leukemias with trisomy 8 have increased MYC.

205 ilms tumor 1 (WT1) gene was overexpressed by trisomy 8 hematopoietic progenitor (CD34(+)) cells compa

206 0%); the most common were -Y in 25 (43%) and trisomy 8 in 7 patients (12%).

207 Previously, we showed that trisomy 8 MDS patients had clonally expanded CD8(+) T-ce

208 isomy 8 relative to healthy controls and non-trisomy 8 MDS; WT1 protein levels were also significantl

209 Moreover, trisomy 8 or amplification of 8q24 (MYC) was almost excl

210 arrow mononuclear cells of MDS patients with trisomy 8 relative to healthy controls and non-trisomy 8

211 1 with a relatively good prognosis including trisomy 8, -Y, and an extra copy of Philadelphia chromos

212 YC protooncogene is of central importance in trisomy 8, but the experimental data to support this are

213 mplex karyotype without monosomies, and sole trisomy 8, respectively (P < .0001).

214 sed patients (71%) with cytogenetic data had trisomy 8.

215 Sex chromosome trisomy affects 0.1% of the human population and is asso

216 Strikingly, despite the 21 trisomy, AIRE expression was significantly reduced by 2-

217 ed mitotically, and these included four rare trisomies and all of the monosomies, consistent with the

218 ad very high frequencies of aneuploidy (both trisomy and monosomy) in addition to elevated rates of c

219 lexity of the gene-phenotype relationship in trisomy and suggest that changes in Dyrk1a expression pl

220 ic development; (ii) co-occurrence of mosaic trisomy and UPD and (iii) potential recurrence risks.

221 Five trisomies arose meiotically, and three of the five had U

222 rt genomics technologies we mapped segmental trisomies at exon-level resolution and identified discre

223 sex chromosome through a phenomenon we term trisomy-biased chromosome loss (TCL).

224 isomic chromosomally abnormal group, divided trisomies by chromosome, and classified women by reprodu

225 Human trisomies can alter cellular phenotypes and produce cong

226 Using partial trisomy cases, we mapped this trait to chromosomal band

227 All usual combinations of trisomies (chromosomes 4, 10, 17, 18) were significant f

228 Excluding full chromosome trisomies, CNV size ranged from 18kb to 142Mb, and 34% w

229 pose a new method, TroX, for analyzing human trisomy data using high density SNP markers from a triso

230 In this aggressive model, trisomy did not prevent cancer, but it nevertheless exte

231 had 3-year survival of 47% and patients with trisomy/disomy (n = 46; 25%) had 3-year survival of 35%,

232 ific modeling approach, we show that not all trisomies display the same prognostic impact.

233 DSCR contributing to enhanced refinement in trisomy, Dscam dosage clearly regulates cell spacing and

234 precise methods, we find that constitutional trisomy, even for large chromosomes that are often triso

235 the possibility of detecting the presence of trisomy fetal genomes in the maternal plasma DNA sample

236 ession analysis revealed that polysomy FISH, trisomy FISH, suspicious cytology, primary sclerosing ch

237 enormous medical and social costs, caused by trisomy for chromosome 21.

238 Trisomy for chromosome 7 is frequently observed as an in

239 of congenital heart disease (CHD); however, trisomy for human chromosome 21 (Hsa21) alone is insuffi

240 Trisomy for human chromosome 21 (Hsa21) results in Down

241 oximately two-thirds of cases as a result of trisomy for mouse chromosome 15.

242 Our results revealed that trisomy for only 33 orthologs of human chromosome 21 (Hs

243 Here we provide a few examples of how trisomy for specific genes affects the development of th

244 sk FISH, 49 patients who also had at least 1 trisomy had a median overall survival that was not reach

245 tionship between increasing maternal age and trisomy has been recognized for over 50 years and is one

246 t findings, we conclude that the presence of trisomies in patients with t(4;14), t(14;16), t(14;20),

247 Specifically, the risk of trisomy in a clinically recognized pregnancy rises from

248 t the idea that MYC underlies acquisition of trisomy in AML.

249 cellular and molecular implications of this trisomy in hPSCs.

250 Cell-free DNA (cfDNA) testing for fetal trisomy is highly effective among high-risk women.

251 risomic females the a-priori probability for trisomy is independent of meiotic errors and thus approx

252 dated via cross-species comparison to Ts65Dn trisomy mice.

253 The Ts65Dn mouse is a segmental trisomy model of DS that mimics DS/AD pathology, notably

254 We investigated whether the segmental trisomy model of DS, Ts[Rb(12.1716)]2Cje (Ts2), exhibits

255 longer progression-free survival and that 3 trisomies modulated overall survival (OS) in myeloma pat

256 trisomy rescue, with and without concomitant trisomy, monosomy rescue, and mitotic formation of a mos

257 ontaneous abortions in four karyotype groups-trisomy (n = 154), chromosomally normal male (n = 43), c

258 Trisomies of chromosome 7 and/or chromosome 20 were dete

259 3-PBX1, BCR-ABL1, and MLL translocations and trisomies of chromosomes 4 and 10.

260 hite blood counts (P = .007), and more often trisomies of chromosomes 8 (P = .01) and 21 (P < .001) a

261 apping panel of 7 mouse strains with partial trisomies of regions of mouse chromosome 16 orthologous

262 lysis of 30 subjects carrying rare segmental trisomies of various regions of HSA21.

263 ike phenotype, demonstrating that GATA1s and trisomy of approximately 80% of Hsa21 perturb megakaryop

264 een in 161 (33%) patients, and 275 (57%) had trisomy of at least 1 odd-numbered chromosome.

265 ions in culture, the most common of which is trisomy of chromosome 12.

266 und that two out of eight HMG samples showed trisomy of chromosome 1q, which encompasses many genes,

267 Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and presents a complex

268 he lack of a model system that contains full trisomy of chromosome 21 (Ts21) in a human genome that e

269 te-erythroid progenitors (MEPs) triggered by trisomy of chromosome 21 and is further enhanced by the

270 Down syndrome (DS), caused by trisomy of chromosome 21, is associated with immunologic

271 Down syndrome (DS), or trisomy of chromosome 21, is the most common genetic dis

272 Down's syndrome results from full or partial trisomy of chromosome 21.

273 low-quality lines, aberrant gene expression, trisomy of chromosome 8, and abnormal H2A.X deposition w

274 e number, mostly through reciprocal monosomy-trisomy of homeologous chromosomes (1:3 copies) or nulli

275 to the pathogenic effect of the most common trisomy of human AML.

276 Trisomy of human chromosome 21 (Hsa21) results in Down s

277 Down syndrome (DS), caused by trisomy of human chromosome 21 (Hsa21), is the most comm

278 a genetic disorder caused by full or partial trisomy of human chromosome 21 and presents with many cl

279 Down's syndrome (DS), caused by trisomy of human chromosome 21, is the most common genet

280 existence of selective factors against full trisomy of some chromosomes in the early embryo and prov

281 strategy of potential impact for people with trisomy of the APP gene on chromosome 21, which is a phe

282 iology properties in mice harboring a single trisomy of the Kcnj6 gene.

283 Caenorhabditis elegans with trisomy of the X chromosome, however, have far fewer tri

284 ro as a model to recapitulate the effects of trisomy on hematopoiesis.

285 is in part due to cell-autonomous effects of trisomy on oligodendrocyte differentiation and results i

286 ate the fitness of cells with constitutional trisomy or chromosomal instability (CIN) in vivo using h

287 Patients with FISH showing trisomy or tetrasomy have a similar outcome to patients

288 for high-risk patients without a concurrent trisomy (P = .01).

289 he molecular events acting downstream of the trisomy remain ill defined.

290 mechanisms of formation of the UPD included trisomy rescue, with and without concomitant trisomy, mo

291 Successful trisomy silencing in vitro also surmounts the major firs

292 ach autosomal chromosome arm responded to 2L trisomy similarly, but the ratio distributions for X-lin

293 e similar to patients with CCA; whereas FISH trisomy/tetrasomy patients had an outcome similar to pat

294 Trisomy, the presence of a third copy of one chromosome,

295 but this consisted mostly of reversion from trisomy to disomy and did not correspond to a proportion

296 nificantly lower probability to transmit the trisomy to the offspring.

297 No trisomy was observed in TWIST1-negative stromal cells (0

298 tosomal regions, the predominant response to trisomy was reduced expression to the inverse of the alt

299 tudy describes a targeted removal of a human trisomy, which could prove useful in both clinical and r

300 reduction of the probability to transmit the trisomy with increased maternal ageing.