ライフサイエンスコーパス: trisomy 21

1 nset dementia observed in Down syndrome (DS; trisomy 21).

2 sted abnormalities of chromosome 21 (usually trisomy 21).

3 rsor protein mutations, and Down's syndrome (trisomy 21).

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

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

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

7 must also play a role in AML associated with trisomy 21.

8 21 that levels of AGTR1 protein are lower in trisomy 21.

9 an chromosome 21 which is mainly observed as trisomy 21.

10 tely 85% of women pregnant with fetuses with trisomy 21.

11 almologic findings have been associated with trisomy 21.

12 diagnosis, particularly for the detection of trisomy 21.

13 ociated with nondisjunction (NDJ) leading to trisomy 21.

14 ssed in children with Down syndrome (DS), or trisomy 21.

15 e associated with human trisomies other than trisomy 21.

16 l or clinical observations of the effects of trisomy 21.

17 use of either parameter alone as a marker of trisomy 21.

18 taAPP mRNA and Abeta levels are increased in trisomy 21.

19 es, little is known about paternally derived trisomy 21.

20 ically significantly smaller in fetuses with trisomy 21.

21 cident with many of the clinical findings in trisomy 21.

22 d lymphoblastoid cell lines with and without trisomy 21.

23 in development may parallel abnormalities in trisomy 21.

24 e degradative pathway observed in cells with trisomy 21.

25 e of intellectual disability, resulting from trisomy 21.

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

27 the neurocognitive deficits associated with Trisomy 21.

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

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

30 thers with knowledge that their offspring is trisomy 21.

31 id neoplasms of patients with constitutional trisomy 21.

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

33 unced increase (grade 3), 5 had CF and 6 had trisomy-21.

34 ted in fetuses with cystic fibrosis (CF) and trisomy-21.

35 rmed in 18 formalin-preserved fetuses (eight trisomy 21, 10 euploid control fetuses), and the pelvic

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

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

38 fetuses (4.6%) and 16 of the 53 fetuses with trisomy 21 (30%).

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

40 In Down's syndrome (trisomy 21), a dementia syndrome occurs that is phenotyp

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

42 requires at least three cooperating events--trisomy 21, a GATA1 mutation, and a third, as yet undefi

43 0.84 is used as a cutoff sign to screen for trisomy 21, a sensitivity of 16%, specificity of 97%, od

44 polymorphisms makes it possible to classify trisomy 21 according to the parental origin and stage (m

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

46 the increased knowledge of the way in which trisomy 21 affects hematopoiesis and the specific geneti

47 Trisomy 21 affects virtually every organ system and resu

48 yndrome and may aid in weighing the risks of trisomy 21 against the risks of performing amniocentesis

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

50 Except for one fetus with trisomy 21, all fetuses with abnormalities had relativel

51 onosomy 7 (n = 9, 1.9%), non-Down-associated trisomy 21 alone (n = 7, 1.5%), and rare recurrent chrom

52 Aneuploidy causes around 15% of CHDs, with trisomy 21 (also known as Down syndrome) being the most

53 nducted a multicenter study of screening for trisomies 21 and 18 among patients with pregnancies betw

54 First-trimester screening for trisomies 21 and 18 on the basis of maternal age, matern

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

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

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

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

59 ed with a moderate increase (grade 2), 2 had trisomy 21 and 2 had CF.

60 From 1989 through 1993, 170 infants with trisomy 21 and 267 randomly selected control infants wer

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

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

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

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

65 al myelopoiesis and leukemia associated with trisomy 21 and Alzheimer's Disease.

66 s knowledge of the unique pathophysiology of trisomy 21 and an appreciation for the desires of the fa

67 directly comparable to those in humans with trisomy 21 and are the most widely used animal model of

68 The mean gestational ages for trisomy 21 and control fetuses were 17.0 and 16.7 weeks,

69 n the association between paternally derived trisomy 21 and excessive male probands.

70 children with karyotypically confirmed full trisomy 21 and from 36 normal siblings (mean age 7.4 yea

71 AMKL is frequently associated with trisomy 21 and GATA1 mutations (GATA1s), and children wi

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

73 d from ultrasound studies in 27 fetuses with trisomy 21 and in 135 fetuses with a normal karyotype.

74 , 15.0-20.4 weeks) with chromosomally proved trisomy 21 and in 160 chromosomally normal fetuses (mean

75 c bones could be assessed in 19 fetuses with trisomy 21 and in 87 fetuses with a normal karyotype.

76 ll lines as well as patients presenting with trisomy 21 and Prader-Willi syndrome.

77 In both trisomy 21 and rare cases of triplication of amyloid pre

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

79 A 17-yr-old, 87-kg male patient with trisomy 21 and with respiratory failure and progressive

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

81 normal pregnancies, 268 (82-2%) of 326 with trisomy 21, and 253 (77.9%) of 325 with other chromosoma

82 genomic DNA samples from 23 individuals with trisomy 21, and results were compared to genotypes previ

83 s of males among paternally derived cases of trisomy 21, and suggests that some of the excess of male

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

85 diabetes mellitus (JDM), Down syndrome (DS)/trisomy 21, and the carrier state of Lesch-Nyhan syndrom

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

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

88 cycline, female sex, black race, presence of trisomy 21, and treatment with amsacrine increase the ri

89 karyoblastic leukemia (AMKL) associated with Trisomy 21, and, lastly, a particular subtype of anemia

90 e, mouse models of Down's syndrome and human trisomy 21 are consistent with these predictions.

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

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

93 pathogenesis for DS-ALL leukemogenesis, with trisomy 21 as an initiating or first hit and with chromo

94 dings profoundly affect our understanding of trisomy 21 as they suggest that virtually all maternal n

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

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

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

98 of the CRELD1 gene from individuals with non-trisomy 21-associated AVSD identified heterozygous misse

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

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

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

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

103 Although frequently associated with trisomy 21, autosomal dominant AVSD has also been descri

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

105 develop AD due to Presenilin 1 mutations or Trisomy 21, but not in skin fibroblasts from normal indi

106 ed the possible improvement in screening for trisomy 21 by examining the fetal nasal bone with ultras

107 The distribution of trisomy 21 by origin was 86% maternal (75% MI and 25% MI

108 In screening for trisomy 21, by a combination of maternal age and fetal n

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

110 recombination patterns were examined in 400 trisomy 21 cases of maternal meiosis I origin, grouped b

111 We studied 133 trisomy 21 cases with maternal MII errors to test the hy

112 e 21 is globally up-regulated in human fetal trisomy 21 cases, both in cerebral cortex extracts and i

113 om the observation of Alzheimer's disease in trisomy 21 cases.

114 xcess male probands among paternally derived trisomy 21 cases.

115 h the highest estimated risk included 77% of trisomy-21 cases.

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

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

118 Trisomy 21 causes skeletal alterations in individuals wi

119 ity of cis vs. trans effects is also seen in trisomy 21 cell lines.

120 Trisomy 21 cells show increased induction of interferon-

121 Consistent with cultured trisomy 21 cells, a mouse model of Down syndrome with el

122 large paternally derived population of free trisomy 21 conceptuses ( n = 67).

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

124 Prenatal diagnosis of trisomy 21 currently relies on assessment of risk follow

125 oaches through their application to a set of trisomy 21 data.

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

127 n maternal and paternal age and subgroups of trisomy 21 defined by parental origin and meiotic stage.

128 Individuals with trisomy 21 display complex phenotypes with differing deg

129 is the only well-established risk factor for trisomy 21 Down syndrome (DS), but the basis of the mate

130 ying 2053 fetuses as normal and 30 as having trisomy 21 Down's syndrome (as confirmed by cytogenetic

131 50, SD = 7) healthy, nondemented adults with trisomy 21 Down's syndrome.

132 se (AD) also occur in familial AD and in all trisomy-21 Down syndrome (DS) patients, suggesting a com

133 Trisomy 21 (Down syndrome) is a common condition encount

134 Trisomy 21 (Down syndrome) is associated with a high inc

135 Trisomy 21 (Down syndrome) results in cerebellar dysmorp

136 l defect is most often found associated with trisomy 21 (Down syndrome), but the responsible gene or

137 we successfully identified all nine cases of trisomy 21 (Down syndrome), two cases of trisomy 18 (Edw

138 e trisomy 16 (Ts16) mouse, a model for human trisomy 21 (Down syndrome).

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

140 er incidence of solid tumours in people with trisomy 21 (Down's syndrome).

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

142 skills are known challenges for people with trisomy 21/Down syndrome (DS), but the precise mechanism

143 The pathology of trisomy 21/Down syndrome includes cognitive and memory d

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

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

146 ploidy is sometimes observed in humans (e.g. trisomy 21; Down's syndrome), and it arises more frequen

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

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

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

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

151 We reveal that undifferentiated trisomy 21 ES cells show DYRK1A-dose-sensitive reduction

152 nce of an extra copy of human chromosome 21 (trisomy 21), especially region 21q22.2, causes many phen

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

154 In screening for trisomy 21, examination of the fetal nasal bone could re

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

156 splantation assays to study hematopoiesis in trisomy 21 fetal livers with normal GATA1 alleles.

157 The nasal bone was absent in 43 of 59 (73%) trisomy 21 fetuses and in three of 603 (0.5%) chromosoma

158 with detection of approximately half of all trisomy 21 fetuses at a 5% false-positive rate.

159 were significantly greater (P < .05) in the trisomy 21 fetuses than in the control fetuses and were

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

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

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

163 entiation) is an alteration that persists in trisomy 21 from undifferentiated embryonic stem (ES) cel

164 ardised intelligence quotient test), and had trisomy 21 (full, mosaic, or translocation) confirmed th

165 uld be involved in the induction of both the trisomy 21 genotype and its resultant phenotype.

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

167 cffDNA from three fetuses with trisomy 21 had increased hybridization signals on the ma

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

169 Second-trimester fetuses with trisomy 21 have a significantly greater iliac angle than

170 Recent studies of trisomy 21 have shown that altered levels of recombinati

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

172 ing result was considered to be positive for trisomy 21 if the calculated risk was at least 1 in 270

173 yocytic development, less is known about how trisomy 21 impacts blood formation, particularly in the

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

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

176 an systems affected by trisomy 16 in mice or trisomy 21 in humans including the brain, eye, ear, face

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

178 likely increase our awareness of the role of trisomy 21 in transient myeloproliferative disorder and

179 ncreased chromosome aneuploidy, particularly trisomy 21, in neurons and other cells.

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

181 bserved in maternal blood when the fetus had trisomy 21 indicates that noninvasive cytogenetic diagno

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

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

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

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

186 Trisomy 21 is associated with Down's syndrome, the most

187 Trisomy 21 is associated with hematopoietic abnormalitie

188 e array-based studies have demonstrated that trisomy 21 is characterized by genome-wide alterations t

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

190 ze that the observed lower blood pressure in trisomy 21 is partially caused by the overexpression of

191 Trisomy 21 is the cause of Down [corrected] syndrome (DS

192 Down syndrome (DS) or Trisomy 21 is the most common chromosomal disease and is

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

194 Trisomy 21 is the most frequent genetic cause of cogniti

195 Down syndrome (DS, or Trisomy 21) is one of the most common genetic causes of

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

197 e presence of three copies of chromosome 21 (trisomy 21), is characterized by impairments in learning

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

199 Down syndrome, or trisomy 21, is a complex genetic disease resulting from

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

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

202 Down syndrome (DS), caused by trisomy 21, is associated with an increased risk of Alzh

203 ndrome (DS), the genetic condition caused by trisomy 21, is characterized by variable cognitive impai

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

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

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

207 Our findings indicate that trisomy 21 itself is associated with cell-autonomous exp

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

209 The mechanisms by which trisomy 21 leads to the characteristic Down syndrome (DS

210 e borns a large excess of females, and among trisomy 21 live borns an excess of males.

211 hymidine, or dimethylglycine to the cultured trisomy 21 lymphoblastoid cells improved the metabolic p

212 to determine whether the supplementation of trisomy 21 lymphoblasts in vitro with selected nutrients

213 ition of problems specific to the child with trisomy 21 make it safer and ethical to offer surgical s

214 pared to a normal female map and a published trisomy 21 map derived from meiosis II NDJ.

215 hat increased gene dosage of human DYRK1A in trisomy 21 may disrupt the function of fully differentia

216 uring mitosis, resulting in apoptosis and/or trisomy 21 mosaicism.

217 ribed in newborns with Down syndrome (DS; or trisomy 21 mosaics).

218 nced maternal age is a major risk factor for trisomy 21, most children with Down syndrome are born to

219 c leukemia; however, the specific effects of trisomy 21 on hematopoiesis remain poorly defined.

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

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

222 Trisomy 21, one of the most prevalent congenital birth d

223 5 years with cytogenetic diagnosis of either trisomy 21 or complete unbalanced translocation of chrom

224 All evaluable leukemias had acquired trisomy 21 or tetrasomy 21.

225 Most infants (74%) had trisomy 21 (or mosaicism) as the only cytogenetic abnorm

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

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

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

229 with karyotypic abnormalities in addition to trisomy 21 (P = .037).

230 -fold (95% CI: 1.8, 12.5) increase in RR for trisomy 21 (P =.002).

231 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

232 Nineteen Trisomy 21 patients (17 to 37 years of age) contributed

233 y and pathogenesis of periodontal disease in Trisomy 21 patients.

234 enesis of destructive periodontal disease in Trisomy 21 patients.

235 Of 19 Trisomy 21 periodontitis lesions, 6 (32%) were positive

236 es and putative periodontopathic bacteria in Trisomy 21 periodontitis.

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

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

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

240 Of those, one trisomy 21 POC was also mosaic for trisomy 20, one had a

241 Remarkably, trisomy 21 progenitors exhibited enhanced production of

242 Prenatal diagnosis of trisomy 21 requires an invasive test in women regarded a

243 and regulated kinase 1A (Dyrk1A) gene due to trisomy 21 resulted in overexpression of Dyrk1A and elev

244 The leukemic clone had trisomy 21 resulting from duplication of chromosome 21 c

245 Trisomy 21 results in Down's syndrome, but little is kno

246 nsights into the genetic mechanisms by which trisomy 21 results in DS.

247 The estimated trisomy-21 risk, from maternal age and fetal nuchal-tran

248 R = 1.9), black race (RR = 1.7), presence of trisomy 21 (RR = 3.4), and exposure to amsacrine (RR = 2

249 the 57 normal samples, and two of the three trisomy 21 samples.

250 es that noninvasive cytogenetic diagnosis of trisomy 21 should be feasible.

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

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

253 myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia dri

254 n fetal cells from pregnancies affected with trisomy 21 (t21) and trisomy 13 (t13).

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

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

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

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

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

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

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

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

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

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

265 Down syndrome (DS), caused by trisomy 21 (T21), results in immune and metabolic dysreg

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

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

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

269 blasts from monozygotic twins discordant for trisomy 21 that levels of AGTR1 protein are lower in tri

270 occur with high frequency in Down syndrome (trisomy 21), the most common chromosome duplication in h

271 Here, we show that a genetic model of DS (trisomy 21), the segmental trisomy 16 mouse Ts65Dn, deve

272 g a threshold of at least 2 points to detect trisomy 21, the best ISS had a sensitivity of 45.3%, fal

273 Trisomy 21, the presence of a supernumerary chromosome 2

274 romosome 13 and chromosome 21, indicative of trisomy 21; the remaining 57 samples were deemed to be n

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

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

277 Trisomy 21 (Ts21) affects craniofacial precursors in ind

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

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

280 ular contributions to traits associated with trisomy 21 (Ts21).

281 be detected in fibroblasts from persons with Trisomy 21 two decades before the characteristic onset o

282 AVSD not associated with trisomy 21 usually occurs as a sporadic trait with no in

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

284 The likelihood ratio for trisomy 21 was 146 (95% CI 50-434) for absent nasal bone

285 For heterotrisomy, the SMR after an index trisomy 21 was 2.3 (90% CI 1.5-3.8, P=.0007); the SMR di

286 Risk of trisomy 21 was calculated from the maternal age and gest

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

288 The risk of trisomy 21 was estimated for 96127 women of median age 3

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

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

291 However, similar to trisomy 15 and unlike trisomy 21, we observed a significant increase in the me

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

293 After all cases with an index trisomy 21 were combined, the SMR for homotrisomy was 2.

294 Results of using AAURA to detect trisomy 21 were nearly identical, with a sensitivity of

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

296 schromosomic" mouse line, Tc1, is a model of trisomy 21, which manifests as Down syndrome (DS) in hum

297 Trisomy 21, which results in Down syndrome (DS), is the

298 is a very early pathological consequence of trisomy 21 with potential to disturb the development of

299 ning identified 89.8 percent of fetuses with trisomy 21, with a false positive rate of 15.2 percent,

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