FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4224260089> ?p ?o ?g. }

• W4224260089 abstract "Abstract Background Partial trisomy of the long arm of chromosome 11 is a rare cytogenetic abnormality. It has been characterized by variable sized duplications that lead to a range of phenotypes including growth retardation, developmental delay/intellectual disability, and distinctive craniofacial abnormalities. Congenital heart defects, skeletal abnormalities, urogenital anomalies, and hypotonia are found in some affected individuals. Methods We describe a 16-year-old patient presented with most of the hallmark phenotypes of trisomy 11q syndrome as well as exhibiting symptoms of hearing loss, seizures, and abnormal endocrinological and ophthalmological findings. Routine chromosome analysis and subsequent chromosomal microarray analysis (CMA) were performed to detect genetic abnormalities in this patient. Results We identified an abnormal male karyotype with a derivative chromosome 4 due to an unbalanced translocation between chromosomes 4 and chromosome 11. The CMA results revealed a 56 Mb duplication of chromosome 11q14.1-qter and a 874 Kb terminal deletion of the short arm of chromosome 4. Conclusion A genomic imbalance resulting in partial trisomy 11q was found in a patient with multiple congenital anomalies. We compared the phenotypes of all known “pure” trisomy 11q cases in the literature and find that trisomy 11q23-qter is both recurrent and the most common cytogenetic abnormality found in the reported cases. It is associated with the core features of trisomy 11q syndrome. Graphical abstract" @default.
• W4224260089 created "2022-04-26" @default.
• W4224260089 creator A5005122439 @default.
• W4224260089 creator A5034174266 @default.
• W4224260089 creator A5053949203 @default.
• W4224260089 creator A5054019376 @default.
• W4224260089 creator A5062251921 @default.
• W4224260089 creator A5064531137 @default.
• W4224260089 creator A5084431912 @default.
• W4224260089 creator A5088724351 @default.
• W4224260089 date "2022-04-19" @default.
• W4224260089 modified "2023-10-14" @default.
• W4224260089 title "Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies" @default.
• W4224260089 cites W1833063457 @default.
• W4224260089 cites W1910481707 @default.
• W4224260089 cites W1969043166 @default.
• W4224260089 cites W1973818632 @default.
• W4224260089 cites W1976917350 @default.
• W4224260089 cites W1978996819 @default.
• W4224260089 cites W1992190205 @default.
• W4224260089 cites W2015249142 @default.
• W4224260089 cites W2022342537 @default.
• W4224260089 cites W2023932288 @default.
• W4224260089 cites W2049871447 @default.
• W4224260089 cites W2057106288 @default.
• W4224260089 cites W2064019796 @default.
• W4224260089 cites W2074973049 @default.
• W4224260089 cites W2079079941 @default.
• W4224260089 cites W2081895961 @default.
• W4224260089 cites W2082706131 @default.
• W4224260089 cites W2124294121 @default.
• W4224260089 cites W2133362245 @default.
• W4224260089 cites W2134699030 @default.
• W4224260089 cites W2143539880 @default.
• W4224260089 cites W2313291005 @default.
• W4224260089 cites W2402324603 @default.
• W4224260089 cites W2415813922 @default.
• W4224260089 cites W2415933938 @default.
• W4224260089 cites W2416862401 @default.
• W4224260089 cites W2594667056 @default.
• W4224260089 cites W4302320588 @default.
• W4224260089 doi "https://doi.org/10.1186/s13039-022-00595-0" @default.
• W4224260089 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35440058" @default.
• W4224260089 hasPublicationYear "2022" @default.
• W4224260089 type Work @default.
• W4224260089 citedByCount "0" @default.
• W4224260089 crossrefType "journal-article" @default.
• W4224260089 hasAuthorship W4224260089A5005122439 @default.
• W4224260089 hasAuthorship W4224260089A5034174266 @default.
• W4224260089 hasAuthorship W4224260089A5053949203 @default.
• W4224260089 hasAuthorship W4224260089A5054019376 @default.
• W4224260089 hasAuthorship W4224260089A5062251921 @default.
• W4224260089 hasAuthorship W4224260089A5064531137 @default.
• W4224260089 hasAuthorship W4224260089A5084431912 @default.
• W4224260089 hasAuthorship W4224260089A5088724351 @default.
• W4224260089 hasBestOaLocation W42242600891 @default.
• W4224260089 hasConcept C104317684 @default.
• W4224260089 hasConcept C118552586 @default.
• W4224260089 hasConcept C138626823 @default.
• W4224260089 hasConcept C142724271 @default.
• W4224260089 hasConcept C15151550 @default.
• W4224260089 hasConcept C2776229224 @default.
• W4224260089 hasConcept C2779546488 @default.
• W4224260089 hasConcept C2780189214 @default.
• W4224260089 hasConcept C30481170 @default.
• W4224260089 hasConcept C47042493 @default.
• W4224260089 hasConcept C50965678 @default.
• W4224260089 hasConcept C53226629 @default.
• W4224260089 hasConcept C54355233 @default.
• W4224260089 hasConcept C57269778 @default.
• W4224260089 hasConcept C71924100 @default.
• W4224260089 hasConcept C86803240 @default.
• W4224260089 hasConceptScore W4224260089C104317684 @default.
• W4224260089 hasConceptScore W4224260089C118552586 @default.
• W4224260089 hasConceptScore W4224260089C138626823 @default.
• W4224260089 hasConceptScore W4224260089C142724271 @default.
• W4224260089 hasConceptScore W4224260089C15151550 @default.
• W4224260089 hasConceptScore W4224260089C2776229224 @default.
• W4224260089 hasConceptScore W4224260089C2779546488 @default.
• W4224260089 hasConceptScore W4224260089C2780189214 @default.
• W4224260089 hasConceptScore W4224260089C30481170 @default.
• W4224260089 hasConceptScore W4224260089C47042493 @default.
• W4224260089 hasConceptScore W4224260089C50965678 @default.
• W4224260089 hasConceptScore W4224260089C53226629 @default.
• W4224260089 hasConceptScore W4224260089C54355233 @default.
• W4224260089 hasConceptScore W4224260089C57269778 @default.
• W4224260089 hasConceptScore W4224260089C71924100 @default.
• W4224260089 hasConceptScore W4224260089C86803240 @default.
• W4224260089 hasIssue "1" @default.
• W4224260089 hasLocation W42242600891 @default.
• W4224260089 hasLocation W42242600892 @default.
• W4224260089 hasLocation W42242600893 @default.
• W4224260089 hasLocation W42242600894 @default.
• W4224260089 hasOpenAccess W4224260089 @default.
• W4224260089 hasPrimaryLocation W42242600891 @default.
• W4224260089 hasRelatedWork W2075717241 @default.
• W4224260089 hasRelatedWork W2145074440 @default.
• W4224260089 hasRelatedWork W2147650665 @default.
• W4224260089 hasRelatedWork W2157755148 @default.
• W4224260089 hasRelatedWork W2355422114 @default.

• next