ライフサイエンスコーパス: trisomy

1 osis can thus partially correct pre-existing trisomy.

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

3 o have a neurodevelopmental disorder such as trisomy.

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

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

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

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

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

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

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

11 Trisomy 12 cells also exhibit upregulation of intracellu

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

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

14 1.9% NOTCH1 mutation frequency in aggressive trisomy 12 CLL cases.

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

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

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

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

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

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

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

22 All trisomy 12 CLLs displayed constitutive HH pathway activa

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

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

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

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

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

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

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

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

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

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

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

34 of chronic lymphocytic leukaemia (including trisomy 12, loss of chromosomes 13q and 13q, and copy-ne

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

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

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

38 L, high IGF1R expression was associated with trisomy 12.

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

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

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

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

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

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

45 Trisomy 13 and 18 are genetic diagnoses with characteris

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

47 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

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

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

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

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

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

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

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

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

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

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

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

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

60 We show that while trisomy 15 and trisomy 21 embryos develop similarly to e

61 ibit high rates of developmental arrest, and trisomy 16 embryos display a hypo-proliferation of the t

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

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

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

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

66 yndrome by presence of CHD [n = 22,317], and trisomy 18 [n = 2,174]) were included in the meta-analys

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 the fore- and hindlimbs of abnormal cyclopic trisomy 18 and anencephalic human fetuses, and of normal

71 bs and/or hindlimbs of the abnormal cyclopic trisomy 18 and anencephalic human fetuses.

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

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

74 oblast cells obtained from two patients with trisomy 18 and two matched controls, with follow-up expr

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

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

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

78 understanding the molecular consequences of trisomy 18 or considering potential therapeutic approach

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

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

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

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

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

84 Trisomy 18, sometimes called Edwards syndrome, occurs in

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

86 2%-26.1%) and 12.6% (95% CI, 8.9%-17.1%) for trisomy 18.

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

88 .4%-18.5%) and 9.8% (95% CI, 6.4%-14.0%) for trisomy 18.

89 .2% for trisomy 21 and 40.0% versus 8.3% for trisomy 18.

90 ealthcare management plans for newborns with trisomy 18.

91 some of the most common symptoms observed in trisomy 18.

92 ects and medical conditions among those with trisomy 18.

93 nces in survival, a unique characteristic of trisomy 18.

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

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

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

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

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

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

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

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

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

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

104 Trisomy 21 (T21) causes Down syndrome (DS), a condition

105 Trisomy 21 (T21) causes Down syndrome (DS), affecting im

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

107 Human fetuses with trisomy 21 (T21) have atypical brain development that is

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

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

110 are those with Down Syndrome (DS, caused by trisomy 21 (T21)), 70% of whom develop dementia during l

111 rome (DS) is a congenital disorder caused by trisomy 21 (T21).

112 Trisomy 21 (Ts21) affects craniofacial precursors in ind

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

114 ion of DYRK1A, a triplicated gene product of Trisomy 21 (Ts21).

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

116 Trisomy 21 affects virtually every organ system and resu

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

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

119 ment of new ocular pathology in a child with trisomy 21 and a previously normal examination is not un

120 TAM requires trisomy 21 and truncating mutations in GATA1; additional

121 ients with Down syndrome (DS) resulting from trisomy 21 are four times more likely to have childhood

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

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

124 Ocular pathology occurs in trisomy 21 at a much higher prevalence than the general

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

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

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

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

129 Trisomy 21 causes skeletal alterations in individuals wi

130 Trisomy 21 cells show increased induction of interferon-

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

132 development, the understanding of how human trisomy 21 effects Down syndrome neurobiology, and the t

133 We show that while trisomy 15 and trisomy 21 embryos develop similarly to euploid embryos,

134 Records were reviewed for 689 patients with trisomy 21 evaluated at Vanderbilt Eye Institute between

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

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

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

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

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

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

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

142 These results suggest that trisomy 21 induces a modified regulation and compensatio

143 We conclude that trisomy 21 is a cause of autoimmune PNDM that is not HLA

144 Down syndrome (DS) or Trisomy 21 is a developmental disorder leading to cognit

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

146 Trisomy 21 is associated with hematopoietic abnormalitie

147 lopmental disorders, and increased dosage in trisomy 21 is implicated in Down syndrome related pathol

148 Trisomy 21 is the most frequent genetic cause of cogniti

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

150 (Hsa21) contains more than 500 genes, making trisomy 21 one of the most complex genetic perturbations

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

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

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

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

155 hat is HLA associated and diabetes caused by trisomy 21 that is not HLA associated.

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

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

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

159 We found that trisomy 21 was seven times more likely in our PNDM cohor

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

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

162 of AD.SIGNIFICANCE STATEMENT Down syndrome (trisomy 21) (DS) is a neurodevelopmental disorder invari

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

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

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

166 that lysosomal dysfunction in Down ayndrome (trisomy 21), a neurodevelopmental disorder and form of e

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

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

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

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

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

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

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

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

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

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

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

178 cal mechanisms underlying Down syndrome (DS)/Trisomy 21, including dysregulation of essential signall

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

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

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

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

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

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

185 ations lead to increased DSCAM expression in trisomy 21, our findings may help uncover novel mechanis

186 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

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

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

189 Trisomy 21, the presence of a supernumerary chromosome 2

190 ly implicate elevated Notch signaling due to trisomy 21, thereby promoting neural stem cell cycling t

191 Since the first description of trisomy 21, we have learned much about intellectual disa

192 s of HSCR: Holstein (Hol(Tg/Tg), a model for trisomy 21-associated HSCR), TashT (TashT(Tg/Tg), a mode

193 els that better reflect the genetic basis of trisomy 21.

194 the neurocognitive deficits associated with Trisomy 21.

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

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

197 thers with knowledge that their offspring is trisomy 21.

198 id neoplasms of patients with constitutional trisomy 21.

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

200 almologic findings have been associated with trisomy 21.

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

202 l interneuron development and contributes to trisomy-21/Down-syndrome-related intellectual disability

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

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

205 .04], log(10)(WBC) (HR = 1.33; P = .02), and trisomy 22 (HR = 0.54; P = .08) were relevant factors fo

206 8 (P = .01) and 21 (P < .001) and less often trisomy 22 (P = .02).

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

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

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

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

211 del(17p); t(4;14); del(1p32); 1q21 gain; and trisomies 3, 5, and 21 in a cohort of newly diagnosed pa

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

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

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

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

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

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

218 nes, and specific copy number gains, such as trisomy 7 in glioblastoma and isochromosome 17q in medul

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

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

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

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

223 0%); the most common were -Y in 25 (43%) and trisomy 8 in 7 patients (12%).

224 1 with a relatively good prognosis including trisomy 8, -Y, and an extra copy of Philadelphia chromos

225 sociated with HSTCL are isochromosome 7q and trisomy 8, and most cases harbor mutations in genes invo

226 erations, including the murine equivalent of trisomy 8, loss of the AML commonly deleted region on ch

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

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

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

230 is protective mechanism is mediated by BACE2-trisomy and cross-inhibited by clinically trialled BACE1

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

232 mosome truncations, large deletions, partial trisomy, and evidence of chromothripsis and breakage-fus

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

234 Human trisomies can alter cellular phenotypes and produce cong

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

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

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

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

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

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

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

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

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

244 Trisomy for chromosome 7 is frequently observed as an in

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

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

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

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

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

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

251 cellular and molecular implications of this trisomy in hPSCs.

252 ness or were largely neutral, while a single trisomy increased metastatic behavior by triggering a pa

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

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

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

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

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

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

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

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

261 ked to numerous autosomal and sex chromosome trisomies of maternal origin.

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

263 Mouse models of DS, involving trisomy of all or part of human chromosome 21 or ortholo

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 drome is a common genetic disorder caused by trisomy of chromosome 21.

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

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

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

277 Down syndrome (DS), trisomy of human chromosome 21 (Hsa21), results in a bro

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

279 es of the second most common human autosomal trisomy of infants who survive to term.

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

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

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

283 rdiploidy also occurs early, with individual trisomies often acquired in different chronological wind

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

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

289 Successful trisomy silencing in vitro also surmounts the major firs

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

291 across 13 different trisomic cell lines, 12 trisomies suppressed invasiveness or were largely neutra

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

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

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

295 MYC [t(MYC)] (62%), deletion (del)17p (38%), trisomy (tri)18 (30%), del13q (29%), tri3 (24%), tri12 (

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

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

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

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

300 meologous chromosome V pair, monosomic V, or trisomy XV.