FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4322724992> ?p ?o ?g. }

• W4322724992 endingPage "321" @default.
• W4322724992 startingPage "310" @default.
• W4322724992 abstract "<b><i>Introduction:</i></b> The pure interstitial trisomy 11q11q23.2 is an uncommon genomic disorder associated with nonrecurrent intrachromosomal duplications. The phenotype is characterized by intellectual disability and craniofacial abnormalities. Given their uncommonness, a comprehensive genotype-phenotype correlation has not fully been defined. <b><i>Case Presentation:</i></b> We report the clinical and cytogenomic characterization of a 5-year-old boy with intellectual disability, psychomotor retardation, craniofacial dysmorphism, genital anomalies, and pure interstitial trisomy 11q arising from a nonrecurrent 11q13.1q22.3 intrachromosomal duplication in a high-mosaic state (&#x3e;80%). The duplicated chromosome was characterized by cytogenetics, multicolor banding FISH, and SNP array. We demonstrated the wide mosaic distribution of the 11q duplication by interphase FISH in tissues from different embryonic germ layers. The duplication involves a copy number gain of 45.3 Mb containing 22 dosage-sensitive genes. We confirmed the overexpression of dosage-sensitive genes along the duplicated region using RT-qPCR. <b><i>Discussion:</i></b> Only 8 patients have been described. Our patient shares clinical features with previous reports but differs from them by the presence of genital anomalies. We provide a detailed clinical review and an accurate genotype-phenotype correlation and propose <i>PC</i>, <i>NDUFV1</i>, <i>FGF3</i>, <i>FGF4</i>, and <i>DHCR7</i> as dosage-sensitive genes with a possible role in the clinical spectrum of our patient; however, expression changes of <i>FGF3/4</i> were not detected since they must be regulated in a spatiotemporal way. This patient contributes to the accurate description of the pure interstitial trisomy 11q. Future reports could continue to delineate the description, considering the relationship between the chromosome segment and the genes involved." @default.
• W4322724992 created "2023-03-03" @default.
• W4322724992 creator A5000245240 @default.
• W4322724992 creator A5004002899 @default.
• W4322724992 creator A5035945983 @default.
• W4322724992 creator A5041915935 @default.
• W4322724992 creator A5045862197 @default.
• W4322724992 creator A5046949784 @default.
• W4322724992 creator A5067281237 @default.
• W4322724992 date "2023-01-01" @default.
• W4322724992 modified "2023-10-17" @default.
• W4322724992 title "Pure Interstitial Trisomy 11q Arising from a Nonrecurrent 11q13.1q22.3 Mosaic Intrachromosomal Duplication in a Patient with Craniofacial Dysmorphism and Genital Anomalies" @default.
• W4322724992 cites W1833063457 @default.
• W4322724992 cites W1910481707 @default.
• W4322724992 cites W1965402490 @default.
• W4322724992 cites W1976917350 @default.
• W4322724992 cites W2015249142 @default.
• W4322724992 cites W2027380227 @default.
• W4322724992 cites W2032665110 @default.
• W4322724992 cites W2036841261 @default.
• W4322724992 cites W2044021006 @default.
• W4322724992 cites W2049871447 @default.
• W4322724992 cites W2051195561 @default.
• W4322724992 cites W2056301653 @default.
• W4322724992 cites W2078593005 @default.
• W4322724992 cites W2081895961 @default.
• W4322724992 cites W2100317254 @default.
• W4322724992 cites W2143539880 @default.
• W4322724992 cites W2281712398 @default.
• W4322724992 cites W2886746558 @default.
• W4322724992 cites W3082979654 @default.
• W4322724992 cites W3171760549 @default.
• W4322724992 cites W3217033775 @default.
• W4322724992 cites W4237364714 @default.
• W4322724992 cites W4289262011 @default.
• W4322724992 doi "https://doi.org/10.1159/000528472" @default.
• W4322724992 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37766825" @default.
• W4322724992 hasPublicationYear "2023" @default.
• W4322724992 type Work @default.
• W4322724992 citedByCount "0" @default.
• W4322724992 crossrefType "journal-article" @default.
• W4322724992 hasAuthorship W4322724992A5000245240 @default.
• W4322724992 hasAuthorship W4322724992A5004002899 @default.
• W4322724992 hasAuthorship W4322724992A5035945983 @default.
• W4322724992 hasAuthorship W4322724992A5041915935 @default.
• W4322724992 hasAuthorship W4322724992A5045862197 @default.
• W4322724992 hasAuthorship W4322724992A5046949784 @default.
• W4322724992 hasAuthorship W4322724992A5067281237 @default.
• W4322724992 hasConcept C104317684 @default.
• W4322724992 hasConcept C206936463 @default.
• W4322724992 hasConcept C2776229224 @default.
• W4322724992 hasConcept C2778951934 @default.
• W4322724992 hasConcept C2779142324 @default.
• W4322724992 hasConcept C2781245598 @default.
• W4322724992 hasConcept C30481170 @default.
• W4322724992 hasConcept C53226629 @default.
• W4322724992 hasConcept C54355233 @default.
• W4322724992 hasConcept C7602840 @default.
• W4322724992 hasConcept C86803240 @default.
• W4322724992 hasConceptScore W4322724992C104317684 @default.
• W4322724992 hasConceptScore W4322724992C206936463 @default.
• W4322724992 hasConceptScore W4322724992C2776229224 @default.
• W4322724992 hasConceptScore W4322724992C2778951934 @default.
• W4322724992 hasConceptScore W4322724992C2779142324 @default.
• W4322724992 hasConceptScore W4322724992C2781245598 @default.
• W4322724992 hasConceptScore W4322724992C30481170 @default.
• W4322724992 hasConceptScore W4322724992C53226629 @default.
• W4322724992 hasConceptScore W4322724992C54355233 @default.
• W4322724992 hasConceptScore W4322724992C7602840 @default.
• W4322724992 hasConceptScore W4322724992C86803240 @default.
• W4322724992 hasIssue "4" @default.
• W4322724992 hasLocation W43227249921 @default.
• W4322724992 hasLocation W43227249922 @default.
• W4322724992 hasOpenAccess W4322724992 @default.
• W4322724992 hasPrimaryLocation W43227249921 @default.
• W4322724992 hasRelatedWork W1567491324 @default.
• W4322724992 hasRelatedWork W1965076304 @default.
• W4322724992 hasRelatedWork W1970446973 @default.
• W4322724992 hasRelatedWork W2027844600 @default.
• W4322724992 hasRelatedWork W2031823014 @default.
• W4322724992 hasRelatedWork W2040383010 @default.
• W4322724992 hasRelatedWork W2113424017 @default.
• W4322724992 hasRelatedWork W2427134604 @default.
• W4322724992 hasRelatedWork W4245252549 @default.
• W4322724992 hasRelatedWork W2135210286 @default.
• W4322724992 hasVolume "14" @default.
• W4322724992 isParatext "false" @default.
• W4322724992 isRetracted "false" @default.
• W4322724992 workType "article" @default.