ライフサイエンスコーパス: microdeletion

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

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

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

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

5 rgeted protein that is inactive; and a 13q14 microdeletion.

6 haploinsufficiency of genes involved in the microdeletion.

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

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

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 ted entirely in cases involving the smallest microdeletions.

15 a congenital myasthenic syndrome, and 2 had microdeletions.

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

17 leukemic subclones with newly acquired PTEN microdeletions.

18 lid tumors (3.56%), with most being internal 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 th intact alpha gene locus versus those with microdeletions (80+/-2 mm Hg, P<0.05).

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

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

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

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

28 nvestigate the role of the alpha-globin gene microdeletion and beta-globin gene cluster haplotypes on

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

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

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

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

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

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

35 Microdeletions and duplications have been described at t

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

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

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

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

40 Microdeletions and microduplications >100 kilobases were

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

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

43 Small microdeletions and point mutations in SHANK3 have been i

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

45 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions.

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

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

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

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

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

51 ound on the Y chromosome of all mammals, and microdeletions are strongly associated with infertility

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

53 g found to result from micro-duplications or microdeletions arising from meiotic recombination betwee

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

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 her and daughter with SPD who carry a 117-kb microdeletion at the 5' end of the HOXD cluster.

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

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

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

70 00-kilobase) CNVs at several loci, including microdeletions at 1q21.1, 3q29, 15q13.3 and 22q11.2 and

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

72 Microdeletions at 9p23 within the protein tyrosine phosp

73 An increased prevalence of microdeletions at the 22q11 locus has been reported in s

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

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

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

77 Refinement of microdeletion breakpoints identifies a subgroup of patie

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

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

80 Analysis of the extent of these microdeletions by using polymorphic markers afforded fur

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

82 ficiency contributes to the phenotype of NF1 microdeletion cases.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

100 Chromosomal microdeletions encompassing p190RhoGAP or its upstream r

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

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

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

104 Microdeletions Glu767(1-bp del), Thr967(1-bp del), and L

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

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

107 Patients with alpha-globin gene microdeletions had lower mean corpuscular volumes and me

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

109 A microdeletion has been identified in a patient presentin

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

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

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

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

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

115 Germline microdeletions identified by the "Thousand Genomes" proj

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

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

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

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

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

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

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

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

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

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

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

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

128 The coinheritance of microdeletions in one or two of the four alpha-globin ge

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

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

131 It is concluded that the coinheritance of microdeletions in the alpha-globin gene locus in SSA pat

132 al origin of the sickle mutation, as well as microdeletions in the alpha-globin genes, could provide

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

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

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

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

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

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

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

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

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

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

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

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

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

146 e data show that the likely mechanism of NF1 microdeletion is homologous recombination between NF1REP

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

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

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

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

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

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

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

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

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

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

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

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

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

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

161 A microdeletion of chromosome 22q11.2 is found in most pat

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

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

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

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

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

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

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

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

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

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

172 Microdeletions of a region termed the "imprinting center

173 Microdeletions of chromosomal region 2q23.1 that disrupt

174 Microdeletions of chromosome 22q11 are the most common g

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

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

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

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

179 Microdeletions of parts of the Y chromosome are found in

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

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

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

183 Velocardiofacial syndrome results from a microdeletion on chromosome 22 (22q11.2).

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

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

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

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

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

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

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

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

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

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

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

195 he AS families have either a 5.5- or a 15-kb microdeletion, one of which narrowed the shortest region

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

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

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

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

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

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

202 .2 and analysis of somatic cell hybrids from microdeletion patients showed that 14 of 17 cases had de

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

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

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

206 , one of which coincides with the AS minimal microdeletion region and another lies in intron 1 immedi

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

208 FLI gene is mapped within the Smith-Magenis microdeletion region of chromosome 17.

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

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

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

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

213 LCRs distal to the DiGeorge/velocardiofacial microdeletion region.

214 s the deletion breakpoint, we show that this microdeletion removes only HOXD9-HOXD13 and EVX2.

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

216 22q11 microdeletions represent the highest known genetic risk

217 22q11.2 microdeletions result in specific cognitive deficits and

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

219 Microdeletions resulting in a premature stop or a frames

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

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

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

225 Microdeletions strongly associate with the TALLMO subtyp

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

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

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

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

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

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

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

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

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

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

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

237 io-facial syndrome (VCFS) is the most common microdeletion syndrome in humans.

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

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

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

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

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

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

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

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

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

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

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

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

255 nation in meiosis resulting in this frequent microdeletion syndrome.

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

257 ial syndromes (DGS/VCFS), is the most common microdeletion syndrome.

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

259 15q24 microdeletions, linking SIN3A to this microdeletion syndrome.

260 5 lies within the critical interval for 3p25 microdeletion syndrome.

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

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

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

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

265 her regions of the genome where interstitial microdeletion syndromes have been defined.

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

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

268 y of the mouse for the genetic dissection of microdeletion syndromes.

269 ithin the caveolin-3 gene: (i) a 9-base pair microdeletion that removes three amino acids within the

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

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

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

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

274 17q11 microdeletions that encompass NF1 cause 5%-10% of cases

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

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

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

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

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

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

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

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

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

284 In several of these patients, microdeletions upstream of the SNRPN gene have been iden

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

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

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

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

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

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

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

292 e specific DNA binding region of p53 and two microdeletions were outside the region of homology.

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

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

295 Analysis of other microdeletions with variable expressivity indicates that

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

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

298 Microdeletions within chromosome 22q11.2 cause a variabl

299 xhibit 'imprinting mutations', such as small microdeletions within the 5' region of the small nuclear

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