FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2751368909> ?p ?o ?g. }

• W2751368909 endingPage "1555" @default.
• W2751368909 startingPage "1550" @default.
• W2751368909 abstract "ObjectiveBy using array-based single nucleotide polymorphisms comparative genomic hybri-dization (SNP-aCGH) to detect and fine mapping copy number variations (CNVs) in children with unexplained mental retardation/brain development delay(MR/BD), then the CNVs were analyzed to determine diagnosis and offer genetic counseling, finally to discuss the application of SNP-aCGH in genetic diagnosis of MR/BD with unknown causes.MethodsNinety-two children with unexplained MR/BD were recruited.SNP-aCGH was used to get CNVs from the whole genome-wide, and the correlation of CNVs and phenotype was analyzed to definit disease genes or pat-hogenic fragment.Statistics was performed to analyze the common phenotype between positive cases(case with CNVs) and negative cases.Results(1) The CNVs were detected in 10 cases with a detection rate of 10.86%, from which 8 cases showed subtelomeric aberration, 5 cases without subtelomeric aberration, and the rate was 8.70%, 5.40%, respectively.The CNVs related to MR/BD involved 10 different subtelomeric regions (9p, 21q, 3p, 2p, 15q, 4p, 12p, 22q, 16p, 17p), and 7 different regions without subtelomeric (1p, 4q, 2p, 14q, 15q, 12q, 22q). The deletions involved 11 zones (size: 1.05-8.80 Mb), and duplications referred to 8 zones(size: 1.33-31.25 Mb). (2)One case was diagnosed as 9p duplication syndrome, for candidate genes: DOCK8, VLDLR.A case was detected with a gene fracture(CRBN). One case was diagnosed as Coffin-Siris syndrome combined with a deletion of 15q26.3-qter, for candidate genes: SOX11 and LINS1, respectively.One case referred to 12p13.3 deletion syndrome, for candidate genes: ELKS, ERC1.One case referred to 22q13.2-qter deletion, for candidate genes: SHANK3.Two cases were diagnosed as ATR-16 syndrome with 17p13.3 deletion syndrome, their candidate genes: HBA1, HBA2, SOX8 for the former, YWHAE, LIS1 for the latter.(3)There were statistically significant differences in comparison of positive cases to the negative ones for growth delay, internal organs deformity, low birth weight infant(LBW) and premature infant(all P<0.05).Conclusions(1)Besides MR/BD in different degrees in all the positive cases, they also showed growth delay, a portion of them with internal organs deformity, low birth weight infant and premature infant.(2)Subtelomeric aberrations are related to MR/BD, while the submicroscopic rearrangement in regions without subtelomeric is suspiciously pathogenic, and need to be further studied.(3)SNP-aCGH can fine mapping the region of CNVs by high resolution from the whole genome-wide, which does contribute to limit the zones for finding pathogenic region and candidate genes, as well as to offer a technology platform for investigating about the correlation of phenotype and genes or CNVs.Key words: Mental retardation/brain development delay; Single nucleotide polymorphisms comparative geno-mic hybridization; Phenotype analysis" @default.
• W2751368909 created "2017-09-15" @default.
• W2751368909 creator A5022992886 @default.
• W2751368909 creator A5029607574 @default.
• W2751368909 creator A5068042288 @default.
• W2751368909 creator A5069629569 @default.
• W2751368909 date "2016-10-20" @default.
• W2751368909 modified "2023-10-03" @default.
• W2751368909 title "Study of copy number variations in children with unexplained mental retardation/brain development delay" @default.
• W2751368909 doi "https://doi.org/10.3760/cma.j.issn.2095-428x.2016.20.007" @default.
• W2751368909 hasPublicationYear "2016" @default.
• W2751368909 type Work @default.
• W2751368909 sameAs 2751368909 @default.
• W2751368909 citedByCount "0" @default.
• W2751368909 crossrefType "journal-article" @default.
• W2751368909 hasAuthorship W2751368909A5022992886 @default.
• W2751368909 hasAuthorship W2751368909A5029607574 @default.
• W2751368909 hasAuthorship W2751368909A5068042288 @default.
• W2751368909 hasAuthorship W2751368909A5069629569 @default.
• W2751368909 hasConcept C104317684 @default.
• W2751368909 hasConcept C120821319 @default.
• W2751368909 hasConcept C122060243 @default.
• W2751368909 hasConcept C124942203 @default.
• W2751368909 hasConcept C127716648 @default.
• W2751368909 hasConcept C135763542 @default.
• W2751368909 hasConcept C139275648 @default.
• W2751368909 hasConcept C141231307 @default.
• W2751368909 hasConcept C153209595 @default.
• W2751368909 hasConcept C23069440 @default.
• W2751368909 hasConcept C54355233 @default.
• W2751368909 hasConcept C71924100 @default.
• W2751368909 hasConcept C7602840 @default.
• W2751368909 hasConcept C86803240 @default.
• W2751368909 hasConceptScore W2751368909C104317684 @default.
• W2751368909 hasConceptScore W2751368909C120821319 @default.
• W2751368909 hasConceptScore W2751368909C122060243 @default.
• W2751368909 hasConceptScore W2751368909C124942203 @default.
• W2751368909 hasConceptScore W2751368909C127716648 @default.
• W2751368909 hasConceptScore W2751368909C135763542 @default.
• W2751368909 hasConceptScore W2751368909C139275648 @default.
• W2751368909 hasConceptScore W2751368909C141231307 @default.
• W2751368909 hasConceptScore W2751368909C153209595 @default.
• W2751368909 hasConceptScore W2751368909C23069440 @default.
• W2751368909 hasConceptScore W2751368909C54355233 @default.
• W2751368909 hasConceptScore W2751368909C71924100 @default.
• W2751368909 hasConceptScore W2751368909C7602840 @default.
• W2751368909 hasConceptScore W2751368909C86803240 @default.
• W2751368909 hasIssue "20" @default.
• W2751368909 hasLocation W27513689091 @default.
• W2751368909 hasOpenAccess W2751368909 @default.
• W2751368909 hasPrimaryLocation W27513689091 @default.
• W2751368909 hasRelatedWork W1582252636 @default.
• W2751368909 hasRelatedWork W1768171927 @default.
• W2751368909 hasRelatedWork W2000550362 @default.
• W2751368909 hasRelatedWork W2044691471 @default.
• W2751368909 hasRelatedWork W2054217796 @default.
• W2751368909 hasRelatedWork W2145034118 @default.
• W2751368909 hasRelatedWork W2281313131 @default.
• W2751368909 hasRelatedWork W2339536054 @default.
• W2751368909 hasRelatedWork W2412342400 @default.
• W2751368909 hasRelatedWork W2417707610 @default.
• W2751368909 hasRelatedWork W2805789990 @default.
• W2751368909 hasRelatedWork W2886856024 @default.
• W2751368909 hasRelatedWork W2893816501 @default.
• W2751368909 hasRelatedWork W2950943363 @default.
• W2751368909 hasRelatedWork W2995843620 @default.
• W2751368909 hasRelatedWork W3030192609 @default.
• W2751368909 hasRelatedWork W3048448606 @default.
• W2751368909 hasRelatedWork W3122344443 @default.
• W2751368909 hasRelatedWork W3143109306 @default.
• W2751368909 hasRelatedWork W9921505 @default.
• W2751368909 hasVolume "31" @default.
• W2751368909 isParatext "false" @default.
• W2751368909 isRetracted "false" @default.
• W2751368909 magId "2751368909" @default.
• W2751368909 workType "article" @default.