FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2090388238> ?p ?o ?g. }

• W2090388238 endingPage "213" @default.
• W2090388238 startingPage "206" @default.
• W2090388238 abstract "Objectives Increased nuchal translucency (NT) during the first trimester of pregnancy is a useful marker to detect chromosomal abnormalities. Here, we report a prenatal case with molecular cytogenetic characterisation of an abnormal derivative chromosome 9 identified through NT. Methods Amniocentesis was performed because of an increased NT (4.4 mm) and showed an abnormal de novo 46,XX,add(9)(p24.3) karyotype. To characterise the origin of the small additional material on 9p, we performed a microarray comparative genomic hybridisation (microarray CGH) using a genomic DNA array providing an average of 1 Mb resolution. Results Microarray CGH showed a deletion of distal 9p and a trisomy of distal 17q. These results were confirmed by FISH analyses. Microarray CGH provided accurate information on the breakpoint regions and the size of both distal 9p deletion and distal 17q trisomy. The fetus was therefore a carrier of a de novo derivative chromosome 9 arising from a t(9;17)(p24.3;q24.3) translocation and generating a monosomy 9p24.3-pter and a trisomy 17q24.3-qter. Conclusion This case illustrates that microarray CGH is a rapid, powerful and sensitive technology to identify small de novo unbalanced chromosomal abnormalities and can be applied in prenatal diagnosis. Copyright © 2006 John Wiley & Sons, Ltd." @default.
• W2090388238 created "2016-06-24" @default.
• W2090388238 creator A5018785003 @default.
• W2090388238 creator A5024986238 @default.
• W2090388238 creator A5030541981 @default.
• W2090388238 creator A5040415263 @default.
• W2090388238 creator A5042937449 @default.
• W2090388238 creator A5064546726 @default.
• W2090388238 creator A5069445661 @default.
• W2090388238 creator A5072415091 @default.
• W2090388238 date "2006-01-01" @default.
• W2090388238 modified "2023-10-18" @default.
• W2090388238 title "De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency" @default.
• W2090388238 cites W1484187172 @default.
• W2090388238 cites W1974213412 @default.
• W2090388238 cites W1989215764 @default.
• W2090388238 cites W1992966521 @default.
• W2090388238 cites W2007933649 @default.
• W2090388238 cites W2020183806 @default.
• W2090388238 cites W2028436565 @default.
• W2090388238 cites W2031519982 @default.
• W2090388238 cites W2044902460 @default.
• W2090388238 cites W2052912084 @default.
• W2090388238 cites W2063739474 @default.
• W2090388238 cites W2069243413 @default.
• W2090388238 cites W2071123657 @default.
• W2090388238 cites W2108637300 @default.
• W2090388238 cites W2146885081 @default.
• W2090388238 cites W2156643308 @default.
• W2090388238 cites W2170828133 @default.
• W2090388238 doi "https://doi.org/10.1002/pd.1379" @default.
• W2090388238 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16450348" @default.
• W2090388238 hasPublicationYear "2006" @default.
• W2090388238 type Work @default.
• W2090388238 sameAs 2090388238 @default.
• W2090388238 citedByCount "21" @default.
• W2090388238 countsByYear W20903882382012 @default.
• W2090388238 countsByYear W20903882382013 @default.
• W2090388238 countsByYear W20903882382014 @default.
• W2090388238 countsByYear W20903882382015 @default.
• W2090388238 countsByYear W20903882382016 @default.
• W2090388238 countsByYear W20903882382017 @default.
• W2090388238 countsByYear W20903882382018 @default.
• W2090388238 countsByYear W20903882382019 @default.
• W2090388238 crossrefType "journal-article" @default.
• W2090388238 hasAuthorship W2090388238A5018785003 @default.
• W2090388238 hasAuthorship W2090388238A5024986238 @default.
• W2090388238 hasAuthorship W2090388238A5030541981 @default.
• W2090388238 hasAuthorship W2090388238A5040415263 @default.
• W2090388238 hasAuthorship W2090388238A5042937449 @default.
• W2090388238 hasAuthorship W2090388238A5064546726 @default.
• W2090388238 hasAuthorship W2090388238A5069445661 @default.
• W2090388238 hasAuthorship W2090388238A5072415091 @default.
• W2090388238 hasConcept C104317684 @default.
• W2090388238 hasConcept C124942203 @default.
• W2090388238 hasConcept C150194340 @default.
• W2090388238 hasConcept C15151550 @default.
• W2090388238 hasConcept C153911025 @default.
• W2090388238 hasConcept C172680121 @default.
• W2090388238 hasConcept C186836561 @default.
• W2090388238 hasConcept C206936463 @default.
• W2090388238 hasConcept C2776229224 @default.
• W2090388238 hasConcept C2777966818 @default.
• W2090388238 hasConcept C2778258057 @default.
• W2090388238 hasConcept C2779142324 @default.
• W2090388238 hasConcept C2779234561 @default.
• W2090388238 hasConcept C30481170 @default.
• W2090388238 hasConcept C53226629 @default.
• W2090388238 hasConcept C54355233 @default.
• W2090388238 hasConcept C86803240 @default.
• W2090388238 hasConceptScore W2090388238C104317684 @default.
• W2090388238 hasConceptScore W2090388238C124942203 @default.
• W2090388238 hasConceptScore W2090388238C150194340 @default.
• W2090388238 hasConceptScore W2090388238C15151550 @default.
• W2090388238 hasConceptScore W2090388238C153911025 @default.
• W2090388238 hasConceptScore W2090388238C172680121 @default.
• W2090388238 hasConceptScore W2090388238C186836561 @default.
• W2090388238 hasConceptScore W2090388238C206936463 @default.
• W2090388238 hasConceptScore W2090388238C2776229224 @default.
• W2090388238 hasConceptScore W2090388238C2777966818 @default.
• W2090388238 hasConceptScore W2090388238C2778258057 @default.
• W2090388238 hasConceptScore W2090388238C2779142324 @default.
• W2090388238 hasConceptScore W2090388238C2779234561 @default.
• W2090388238 hasConceptScore W2090388238C30481170 @default.
• W2090388238 hasConceptScore W2090388238C53226629 @default.
• W2090388238 hasConceptScore W2090388238C54355233 @default.
• W2090388238 hasConceptScore W2090388238C86803240 @default.
• W2090388238 hasIssue "3" @default.
• W2090388238 hasLocation W20903882381 @default.
• W2090388238 hasLocation W20903882382 @default.
• W2090388238 hasOpenAccess W2090388238 @default.
• W2090388238 hasPrimaryLocation W20903882381 @default.
• W2090388238 hasRelatedWork W1562490318 @default.
• W2090388238 hasRelatedWork W1985000757 @default.
• W2090388238 hasRelatedWork W2031181019 @default.
• W2090388238 hasRelatedWork W2090388238 @default.
• W2090388238 hasRelatedWork W2110033346 @default.
• W2090388238 hasRelatedWork W2382823987 @default.

• next