ライフサイエンスコーパス: microdeletion

1 ysgenesis, were unlikely to be caused by the microdeletion.

2 es the previously described "distal" 16p11.2 microdeletion.

3 ied a subset of brain miRNAs affected by the microdeletion.

4 euronal deficits associated with the 22q11.2 microdeletion.

5 sent a new type of genomic lesion-epigenetic microdeletion.

6 orticoids observed in a patient with 16p11.2 microdeletion.

7 haploinsufficiency of genes involved in the microdeletion.

8 lid tumors (3.56%), with most being internal microdeletions.

9 mutations, favoring both microinsertions and microdeletions.

10 mutations in NSCLC, particularly the exon 19 microdeletions.

11 , with the remaining approximately 30% being microdeletions.

12 or schizophrenia associated with the 22q11.2 microdeletions.

13 ach family identified overlapping hemizygous microdeletions.

14 esting was performed to exclude Y chromosome microdeletions.

15 ted entirely in cases involving the smallest microdeletions.

16 a congenital myasthenic syndrome, and 2 had microdeletions.

17 l phenotypes associated with proximal 1q21.1 microdeletions.

18 leukemic subclones with newly acquired PTEN microdeletions.

19 ntify distinct expression changes in 16p11.2 microdeletions, 16p11.2 microduplications, and 7q11.23 d

20 ination reciprocal product of the common SMS microdeletion (~3.7 Mb), 13 subjects (~37%) have nonrecu

21 the Df(16)A(+/-) mouse model of the 22q11.2 microdeletion, a genetic risk factor for developing seve

22 istration and Df(16)A(+/-), modeling 22q11.2 microdeletions, a genetic variant highly penetrant for s

23 ontrol subjects and 3 subjects with ASD with microdeletions affecting PTCHD1-AS/PTCHD1, PTCHD1-AS/DDX

24 cted individuals with the 3-kb or the 4.4-kb microdeletion, an individual with a NESP55 deletion, and

25 We describe 21 probands with the 1q21.1 microdeletion and 15 probands with the 1q21.1 microdupli

26 stem cells, from 3 patients with the 15q13.3 microdeletion and 3 control subjects, were generated and

27 This variant consists of an intronic microdeletion and a highly polymorphic short tandem repe

28 2 deletion (22q11DS) is a common chromosomal microdeletion and a potent risk factor for psychotic ill

29 We have identified a novel, recurrent microdeletion and a reciprocal microduplication that car

30 les from a patient with a known X chromosome microdeletion and from patients with multiple copies of

31 We identified a homozygous 306 kb microdeletion and homozygous predicted null mutations of

32 rome (TS); others are multigenic such as the microdeletion and microduplication syndromes of the 16p1

33 rsect with the critical regions of recurrent microdeletion and microduplication syndromes.

34 macrocephaly were found in individuals with microdeletion and microduplication, respectively.

35 RRT2 mutations and six patients with 16p11.2 microdeletions and a paroxysmal kinesigenic dyskinesia p

36 romosome 4q24, in a region showing recurrent microdeletions and copy-neutral loss of heterozygosity (

37 Microdeletions and duplications have been described at t

38 ome and detect single nucleotide variations, microdeletions and duplications within it.

39 exon-level resolution and to identify novel microdeletions and duplications.

40 The role of single-stranded microdeletions and epigenetic influences on brain develo

41 umber variants [CNVs], which are chromosomal microdeletions and micro-duplications) are present in 4%

42 Microdeletions and microduplications >100 kilobases were

43 We tested for the presence of microdeletions and microduplications at a specific regio

44 Microdeletions and microduplications of the 16p11.2 chro

45 We propose that recurrent reciprocal microdeletions and microduplications within 1q21.1 repre

46 Small microdeletions and point mutations in SHANK3 have been i

47 Imprinting defects in PWS can be caused by microdeletions and the smallest commonly deleted region

48 omic variants consisting of microinsertions, microdeletions, and transpositions in the human genome.

49 T FINDINGS: Individuals carrying the 22q11.2 microdeletion are at risk for diverse psychiatric diagno

50 hly penetrant risk genes such as the 22q11.2 microdeletion are promising in this regard.

51 half of the detected changes, implying that microdeletions are a characteristic feature of this mali

52 We predict that epigenetic microdeletions are common in human cancer and that they

53 urofibromatosis type 1, and individuals with microdeletions are typically taller than individuals wit

54 s that distinguish patients with the 16p11.2 microdeletion as a distinct autism subtype.

55 20 were detected blindly by MPS, including a microdeletion as small as 300 kb.

56 It is necessary that a Y chromosomal microdeletion assay be carried out prior to any interven

57 dentification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental de

58 , perhaps explaining its tendency to undergo microdeletion associated with mental retardation in Euro

59 chanisms of the most prevalent and penetrant microdeletion associated with neurodevelopmental disorde

60 lliams-Beuren syndrome (WBS), is caused by a microdeletion at 7q11.23 and provides us with one of the

61 We identified a approximately 187 kb microdeletion at chromosome 15q11-13 that encompasses no

62 ional consequences of the hemizygous genomic microdeletion at chromosome 7q11.23.

63 (WS) is a rare genetic disorder, caused by a microdeletion at the 7q11.23 region.

64 WBS results from a microdeletion at the chromosomal location 7q11.23 that e

65 note, during our study, we also identified a microdeletion at the locus in a sibling pair with isolat

66 le with neonatal-lethal OTCD due to a 1.87Mb microdeletion at Xp11.4-p21.1 (37126841-38998991 hg18).

67 They show that microdeletions at 13q12.2 in B-cell precursor acute lymp

68 ociated CNVs have been identified, including microdeletions at 15q13.3 and 16p13.11.

69 on of common clinical features suggests that microdeletions at 17q23.1q23.2 constitute a novel syndro

70 We report seven individuals with microdeletions at 17q23.1q23.2, identified by microarray

71 00-kilobase) CNVs at several loci, including microdeletions at 1q21.1, 3q29, 15q13.3 and 22q11.2 and

72 In addition, microdeletions at 3p14.2 were detected in 3 (5%) cSCCs,

73 Microdeletions at 9p23 within the protein tyrosine phosp

74 Microdeletions at chromosome 2p11.2 are associated with

75 selective T-cell lymphopenia had overlapping microdeletions at chromosome 2p11.2 that spanned FOXI3 a

76 Microdeletions at the human H19/IGF2 ICR (IC1) are propo

77 mtDNA deletions in MNGIE is the presence of microdeletions at the imperfectly homologous breakpoints

78 Intragenic microdeletions, balanced structural rearrangements, fram

79 support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric pheno

80 Refinement of microdeletion breakpoints identifies a subgroup of patie

81 and that they functionally resemble genetic microdeletions but are defined by epigenetic inactivatio

82 likely to facilitate the generation of this microdeletion by means of non-allelic homologous recombi

83 sequencing of their coding regions, and for microdeletions, by fluorescent in situ hybridization.

84 ficiency contributes to the phenotype of NF1 microdeletion cases.

85 For clinically relevant microdeletions, COLD-PCR enabled exclusive amplification

86 The results suggest that 22q11.2 microdeletion confers specific vulnerability that may un

87 ases, we discovered overlapping chromosome X microdeletions containing KDM6A.

88 e arrays, we refined the breakpoints of this microdeletion, defining a 478-kb critical region contain

89 ciprocal of the Smith-Magenis syndrome (SMS) microdeletion (del(17)(p11.2p11.2)).

90 eletion of chromosome 22q11, the most common microdeletion detected in humans, is associated with a l

91 proximately 20-30% of individuals with 22q11 microdeletions develop schizophrenia or schizoaffective

92 Unexpectedly, the microdeletions did not result in loss of their gene prod

93 omosome 22 at locus 11.2, is the most common microdeletion disorder (estimated prevalence of 1 in 400

94 Williams-Beuren syndrome (WBS) is a microdeletion disorder caused by heterozygous loss of ap

95 typic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome (WBS); c

96 We therefore postulate that this microdeletion disrupts a putative cis-acting element req

97 abnormalities as a result of a heterozygous microdeletion distally adjacent to the Williams-Beuren s

98 All seven cases of microdeletions, duplications, translocations, and the tr

99 roband was subsequently identified to have a microdeletion encompassing ARID1B, a known ID gene.

100 nonsense or missense mutations and a de novo microdeletion encompassing STX1B were then identified in

101 t patients have recently been described with microdeletions encompassing BCL11A.

102 ual disability, and brain malformations have microdeletions encompassing DLL1, we hypothesized that i

103 our individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously report

104 The four individuals with microdeletions encompassing KMT2E generally presented si

105 Chromosomal microdeletions encompassing p190RhoGAP or its upstream r

106 analysis, we have identified six overlapping microdeletions encompassing the FOX transcription factor

107 -derived neural progenitors carrying 15q11.2 microdeletion exhibit deficits in adherens junctions and

108 viously identified two almost identical GNAS microdeletions extending from exon NESP55 to antisense (

109 mic repeats) knockouts of individual 15q13.3 microdeletion genes.

110 These data indicate that the Y microdeletion gr/gr is a rare, low-penetrance allele tha

111 The microdeletions had arisen de novo in eight patients, wer

112 s of additional ACD/MPV samples revealed one microdeletion harboring FOXF1 and two distinct microdele

113 A microdeletion has been identified in a patient presentin

114 Individuals with 22q11.2 microdeletions have cognitive and behavioral impairments

115 Individuals with 22q11.2 microdeletions have cognitive deficits and a high risk o

116 hisms in GTF2I, which is found within the WS microdeletion, have been associated with reduced social

117 Df(16)A(+/-) mice, which carry a homologous microdeletion, have deficits in hippocampal-prefrontal c

118 f the cases analyzed appear to have a common microdeletion; however, in the European population, dele

119 Germline microdeletions identified by the "Thousand Genomes" proj

120 One of the microdeletions, identified in a fetus with multicystic d

121 We now report a novel heterozygous 4.4-kb microdeletion in a large kindred with AD-PHP-Ib.

122 e 7 uniparental isodisomy and a 7p telomeric microdeletion in an affected subject.

123 The most prevalent microdeletion in humans occurs at 22q11.2, a region rich

124 deletion syndrome (22q11DS), the most common microdeletion in humans, is associated with multiple med

125 tion Syndrome (22q11.2DS) is the most common microdeletion in humans, with a heterogenous clinical pr

126 A 58 bp microdeletion in the Fpn1 promoter region alters transcr

127 nduced polycythaemia (Pcm) mutation, a 58-bp microdeletion in the promoter region of ferroportin 1 (F

128 olycythaemia (Pcm) mutation revealed a 58-bp microdeletion in the promoter region of ferroportin 1 (F

129 n patients with AD-PHP-Ib who carry the 3-kb microdeletion in the STX16 region (i.e., an isolated los

130 We discovered a recurrent 16p11.2 microdeletion in two probands with autism and none in co

131 and identified monoallelic or biallelic LEF1 microdeletions in 11% (5 of 47) of these primary samples

132 nd activator of transcription 3 (STAT3), and microdeletions in 22q11.21 were the most commonly affect

133 ribe individuals with monogenic heterozygous microdeletions in ANKS1B, a predicted risk gene for auti

134 genetic impact of somatic hemizygous 13q12.2 microdeletions in B-cell precursor (BCP) acute lymphobla

135 The frequency of these microdeletions in mental retardation cases is approximat

136 of a higher-than-expected frequency of 22q11 microdeletions in patients with schizophrenia and the de

137 Rare microdeletions in PWS patients define a 91-kb minimum cr

138 ified in man, is associated with chromosomal microdeletions in the q11 band of chromosome 22.

139 An additional subject with a 0.23 MB microdeletion including the entire KAT6A reading frame w

140 Here we report a microdeletion including the entire LIT1 gene, providing

141 Recent studies reporting that microdeletions incorporating the KATNAL1 locus in humans

142 d two more patients but no controls with the microdeletion, indicating a combined frequency of 0.6% (

143 The most frequent microdeletion involved the PTPRD locus, indicating a pos

144 ysis, we identified a 241 kb chromosome 5q31 microdeletion involving PITX1 in a patient with isolated

145 ocytopenia caused by distinct constitutional microdeletions involving chromosomal region 21q22.12.

146 l lines, we identified homozygous intragenic microdeletions involving genes encoding components of th

147 s, many intragenic mutations and chromosomal microdeletions involving the entire NSD1 gene have been

148 Human chromosome 16p11.2 microdeletion is among the most common gene copy number

149 The 15q13.3 microdeletion is associated with a considerably increase

150 The 15q13.3 microdeletion is associated with several neuropsychiatri

151 One gene disrupted by the 22q11.2 microdeletion is DGCR8, a component of the "microprocess

152 Human chromosome 16p11.2 microdeletion is the most common gene copy number variat

153 Because these microdeletions lead to AD-PHP-Ib only after maternal tra

154 However, the mechanism by which the 22q11 microdeletion leads to SERCA2 overexpression and LTP inc

155 stead, the region of overlap between the two microdeletions likely harbors a cis-acting imprinting co

156 d to that of individuals with atypical 15q24 microdeletions, linking SIN3A to this microdeletion synd

157 rols, have a heterozygous approximately 3-kb microdeletion located approximately 220 kb centromeric o

158 t can be used to detect, e.g., aneuploidies, microdeletions, microduplications and loss of heterozygo

159 A 15q13.3 microdeletion mouse model (Df[h15q13]/+) was generated b

160 ssing its role in neurulation, we analyzed a microdeletion mouse strain lacking Aldh1l1 and observed

161 Our results define microdeletion of 15q24 as a novel recurrent genomic diso

162 ac and craniofacial features associated with microdeletion of 22q11 (del22q11), the most frequent hum

163 structures is disrupted in human chromosomal microdeletion of 22q11.2 (del22q11), which causes DiGeor

164 lliams-Beuren syndrome was made based on the microdeletion of 7q11.23.

165 Williams-Beuren syndrome (WBS), caused by a microdeletion of approximately 21 genes on chromosome 7q

166 a genetic disorder resulting from hemizygous microdeletion of chromosome 7q11.23, has emerged as a mo

167 These results suggest that microdeletion of genomic loci containing miR-204 is dire

168 Williams syndrome (WS), caused by microdeletion of some 21 genes on chromosome 7q11.23, is

169 gene on chromosome 7q11.23, owing to either microdeletion of the entire chromosomal region or ELN po

170 A microdeletion of the HBII-85 snoRNAs in a child with PWS

171 We previously identified a rare microdeletion of the X-linked gene GLRA2, encoding the G

172 pathogenic rearrangements, including de novo microdeletions of 17q21.31 found in four individuals.

173 Microdeletions of 22q11.2 represent one of the highest k

174 ified and characterized 3 patients with rare microdeletions of 2p15-p16.1 who presented with an autis

175 Recurrent microdeletions of 8p23.1 that include GATA4 and SOX7 con

176 Microdeletions of chromosomal region 2q23.1 that disrupt

177 d the psychiatric phenotypes associated with microdeletions of chromosome 22q11.

178 S cohort (n = 111), recurrent exon-affecting microdeletions of four genes, including the gene encodin

179 t mutations in FOXF1 with bowel malrotation, microdeletions of FOXF1 were associated with hypoplastic

180 Most importantly, we report that microdeletions of key genes appear to be a common, chara

181 Microdeletions of parts of the Y chromosome are found in

182 uals and from human donors with ASD carrying microdeletions of SHANK3.

183 Importantly, intragenic microdeletions of the EGFR phosphatase PTPRS were freque

184 Microdeletions of the MEF2C gene are linked to a syndrom

185 A microdeletion on 6q21 results in the fusion of FIG, a ge

186 22q11 deletion syndrome and are caused by a microdeletion on chromosome 22q11.

187 tly, we have identified patients with a 1 Mb microdeletion on chromosome 22q11.2 encompassing the MAP

188 WS), a genetic disorder caused by hemizygous microdeletion on chromosome 7q11.23 and characterized by

189 iams syndrome (WS), caused by a heterozygous microdeletion on chromosome 7q11.23, is a neurodevelopme

190 Williams syndrome, caused by a hemizygous microdeletion on chromosome 7q11.23, is characterized by

191 is a genetic disorder caused by a hemizygous microdeletion on chromosome 7q11.23.

192 We analyzed the effects of the 15q13.3 microdeletion on genome-wide gene expression, DNA methyl

193 re we study Df(16)A(+/-) mice, which model a microdeletion on human chromosome 22 (22q11.2) that cons

194 Herein we report the impact of the Pcm microdeletion on iron homeostasis in two compartments of

195 rthermore, we observed global effects of the microdeletion on the transcriptome and epigenome, with d

196 ac, and renal defects who harbor overlapping microdeletions on 8q24.3.

197 Rare individuals with PWS who carry atypical microdeletions on chromosome 15q have narrowed the criti

198 Microdeletions on chromosomes 17q11.2 and 21q22.12 invol

199 -function mutation (nonsense, frameshift, or microdeletion) on one allele and a low-frequency 34 bp d

200 cluding three single-base substitutions, one microdeletion, one microinsertion, and one heterozygous

201 that 6% of fetal material showed evidence of microdeletion or microduplication, including three indep

202 region 2q23.1 and acquired 65 subjects with microdeletion or translocation.

203 ein-coding genes through the introduction of microdeletions or insertions that cause frameshifts with

204 The novel 4.4-kb microdeletion overlaps with the previously identified de

205 tively), in particular in those with exon 19 microdeletions (P = 0.006 and 0.033, respectively), but

206 In the presence of either of the two microdeletions, parathyroid hormone resistance appears t

207 that although targeted by genomic homozygous microdeletions, PDE4D functions as a tumor-promoting fac

208 in the level of phenotypic expression of the microdeletion; phenotypes included mild-to-moderate ment

209 s miR-126(Delta/Delta) mice bearing a 289-nt microdeletion recapitulated previously described Egfl7 e

210 which is near the DISP1 gene on 1q41-q42, a microdeletion region implicated in neurological developm

211 al to the 22q11.21 DiGeorge/velocardiofacial microdeletion region, duplications are predicted to occu

212 mutations in RNF135, which is within the NF1 microdeletion region, in six families characterized by o

213 DMR at TUBGCP5 within the recurrent 15q11.2 microdeletion region, suggesting potential parent-of-ori

214 ed in the schizophrenia-predisposing 22q11.2 microdeletion region.

215 LCRs distal to the DiGeorge/velocardiofacial microdeletion region.

216 The microdeletion removes the terminal exons of the gene (GL

217 22q11 microdeletions represent the highest known genetic risk

218 22q11.2 microdeletions result in specific cognitive deficits and

219 We show that one such rearrangement, an microdeletion resulting in a fusion between Brevican (BC

220 lts provide mechanistic insight into how the microdeletion results in cognitive deficits, and they su

221 Our analysis reveals that 22q11.2 microdeletion results in deficits in neuronal developmen

222 Our multiomics analysis of the 15q13.3 microdeletion revealed downstream effects in pathways pr

223 lysis of Df(16)A(+/-) mice, which model this microdeletion, revealed abnormalities in the formation o

224 Affected individuals carrying the microdeletion show loss of exon A/B methylation but no e

225 Individuals with 22q11.2 microdeletions show behavioral and cognitive deficits an

226 Microdeletions strongly associate with the TALLMO subtyp

227 Humans with 15q13.3 microdeletion syndrome (15q13.3DS) are typically hemizyg

228 Individuals with 22q11.2 microdeletion syndrome (22q11.2 DS) show cognitive and b

229 o plays a key role in the chromosome 22q13.3 microdeletion syndrome (Phelan-McDermid syndrome), which

230 individuals with clinical features of 5q31.3 microdeletion syndrome and de novo mutations in PURA, en

231 the mechanisms of pathophysiology in 16p11.2 microdeletion syndrome and fragile X syndrome.

232 alterations of MBD5 cause features of 2q23.1 microdeletion syndrome and that this epigenetic regulato

233 eorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation i

234 Primrose syndrome and 3q13.31 microdeletion syndrome are clinically related disorders

235 ed in the reciprocal chromosome 17q23.1q23.2 microdeletion syndrome associated with developmental del

236 We report a recurrent microdeletion syndrome causing mental retardation, epile

237 tions in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primros

238 15q13.3 microdeletion syndrome is a rare genetic disorder, cause

239 The 17p13.1 microdeletion syndrome is a recently described genomic d

240 a single copy deletion of 27 genes, 16p11.2 microdeletion syndrome is characterized by ID, impaired

241 5q31.3 microdeletion syndrome is characterized by neonatal hypo

242 of the 22q11.2 region distal to the 22q11.21 microdeletion syndrome region have recently been describ

243 Notably, this CNV corresponds to a known microdeletion syndrome that affects approximately one in

244 clinical phenotypes associated with 16p11.2 microdeletion syndrome to include cancer, and it suggest

245 ndings of miRNA dysregulation in the 22q11.2 microdeletion syndrome, a well-established genetic risk

246 eral genomic disorders, such as the 17q21.31 microdeletion syndrome, and identified 940 candidate dos

247 SEMA7A is deleted in individuals with 15q24 microdeletion syndrome, characterized by developmental d

248 q11.2 comprise the most frequently occurring microdeletion syndrome, DiGeorge/Velocardiofacial syndro

249 o several alterations related to the 15q13.3 microdeletion syndrome, epilepsy, and schizophrenia, off

250 encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C exp

251 maly syndromes in humans and the most common microdeletion syndrome, velocardiofacial syndrome (VCFS)

252 Applying our technique to the 17q21.31 microdeletion syndrome, we used genome sequencing to det

253 se features with those of chromosome 1q41q42 microdeletion syndrome, which typically contains WDR26,

254 neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome.

255 nation in meiosis resulting in this frequent microdeletion syndrome.

256 th neurodevelopmental disorders, the 22q11.2 microdeletion syndrome.

257 r for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.

258 r some of the core symptoms of human 16p11.2 microdeletion syndrome.

259 ependently generated mouse models of 16p11.2 microdeletion syndrome.

260 DR26 contributes to the pathology of 1q41q42 microdeletion syndrome.

261 so far observed for a CNV associated with a microdeletion syndrome.

262 the effect of point mutations in the 5q31.3 microdeletion syndrome.

263 15q24 microdeletions, linking SIN3A to this microdeletion syndrome.

264 5 lies within the critical interval for 3p25 microdeletion syndrome.

265 diopathic autism, Phelan-McDermid (aka 22q13 microdeletion) syndrome, and other neuropsychiatric diso

266 and CDKL5), (2) single-gene contributors to microdeletion syndromes (MBD5, SATB2, EHMT1, and SNURF-S

267 addition to well-known sporadic chromosomal microdeletion syndromes and Mendelian diseases, many com

268 he DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, includ

269 y available to screen for a select number of microdeletion syndromes, broadening the scope of populat

270 syndrome is characterised by a well defined microdeletion that is associated with a high risk of neu

271 and phenotypic analyses of a de novo 16p11.2 microdeletion that represents one of the most common rec

272 (iPSCs) from a PWS patient with an atypical microdeletion that spans the PWS critical region.

273 n the adult brain are somatically mosaic for microdeletions that appear to arise from the excision of

274 nd that tumor cell genomes contain recurrent microdeletions that eliminate the boundary sites of insu

275 17q11 microdeletions that encompass NF1 cause 5%-10% of cases

276 es a remarkably high frequency of tumor-like microdeletions that reduce fragility at a CFS in culture

277 marcate the breakpoints of recurrent 15q13.3 microdeletions, the expansion of chromosome 15 segmental

278 contains repeats frequently associated with microdeletions, this common SMAD4 deletion in JP most li

279 center mutations (one microinsertion and one microdeletion), thus identifying microinsertion as a new

280 el of the schizophrenia-predisposing 22q11.2 microdeletion to evaluate how this genetic lesion affect

281 ysis localized 12 of the 25 genes within the microdeletion to nodes in one interaction network.

282 characterized a mouse model that mimics BWS microdeletions to define the role of the deleted sequenc

283 sequenced translocation breakpoints; aligned microdeletions to determine the critical region; assesse

284 crodeletion harboring FOXF1 and two distinct microdeletions upstream of FOXF1, implicating a position

285 Searching specifically for small intragenic microdeletions using high-resolution genomic arrays may

286 , gene copy number change within the 15q13.3 microdeletion was accompanied by significantly decreased

287 The microdeletion was detected in 20 of 11,873 cases compare

288 Recently, a high rate of 22q11 microdeletions was also reported for a cohort of 47 pati

289 These microdeletions were clonal in 3% and subclonal in 5% of

290 No mutations or microdeletions were detected in any of the genes analyze

291 Remarkably, equivalent microdeletions were detected in thymocytes of healthy in

292 Homozygous deletions, intragenic breaks, or microdeletions were found in 33% of BRCA1-mutant tumors,

293 s-of-function VPS16 variants, and one with a microdeletion, were identified.

294 f(16)A(+/-) mouse model of the human 22q11.2 microdeletion, which confers a 30-fold increased risk of

295 se that expresses a CD5 protein containing a microdeletion with selective inability to interact with

296 Somatic microindels (microdeletions with microinsertions) have been studied i

297 Analysis of other microdeletions with variable expressivity indicates that

298 A unique heterozygous 3-kb microdeletion within STX16, a closely linked gene centro

299 DG/VCFS) is a common disorder resulting from microdeletion within the same band.

300 Microdeletions within chromosome 22q11.2 cause a variabl

301 trum disorder (ASD) often harbor chromosomal microdeletions, yet the individual genetic contributors