Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313454017> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W4313454017 endingPage "104" @default.
- W4313454017 startingPage "101" @default.
- W4313454017 abstract "To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography.Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing (CNV-seq). The result was verified by fluorescence in situ hybridization (FISH).The fetus and its parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. FISH assay has verified that its mother has carried a cryptic t(5;7)(p14.3;q33) translocation.CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations, and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling." @default.
- W4313454017 created "2023-01-06" @default.
- W4313454017 creator A5006277183 @default.
- W4313454017 creator A5033532580 @default.
- W4313454017 creator A5039044513 @default.
- W4313454017 creator A5042241049 @default.
- W4313454017 creator A5056157208 @default.
- W4313454017 creator A5061647097 @default.
- W4313454017 date "2023-01-10" @default.
- W4313454017 modified "2023-09-28" @default.
- W4313454017 title "[Prenatal diagnosis for a fetus with 5p deletion syndrome]." @default.
- W4313454017 doi "https://doi.org/10.3760/cma.j.cn511374-20220103-00002" @default.
- W4313454017 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36585011" @default.
- W4313454017 hasPublicationYear "2023" @default.
- W4313454017 type Work @default.
- W4313454017 citedByCount "0" @default.
- W4313454017 crossrefType "journal-article" @default.
- W4313454017 hasAuthorship W4313454017A5006277183 @default.
- W4313454017 hasAuthorship W4313454017A5033532580 @default.
- W4313454017 hasAuthorship W4313454017A5039044513 @default.
- W4313454017 hasAuthorship W4313454017A5042241049 @default.
- W4313454017 hasAuthorship W4313454017A5056157208 @default.
- W4313454017 hasAuthorship W4313454017A5061647097 @default.
- W4313454017 hasConcept C104317684 @default.
- W4313454017 hasConcept C120821319 @default.
- W4313454017 hasConcept C138626823 @default.
- W4313454017 hasConcept C141231307 @default.
- W4313454017 hasConcept C172680121 @default.
- W4313454017 hasConcept C2777542201 @default.
- W4313454017 hasConcept C2778194526 @default.
- W4313454017 hasConcept C2778258057 @default.
- W4313454017 hasConcept C2779234561 @default.
- W4313454017 hasConcept C30481170 @default.
- W4313454017 hasConcept C53226629 @default.
- W4313454017 hasConcept C54355233 @default.
- W4313454017 hasConcept C7602840 @default.
- W4313454017 hasConcept C86803240 @default.
- W4313454017 hasConceptScore W4313454017C104317684 @default.
- W4313454017 hasConceptScore W4313454017C120821319 @default.
- W4313454017 hasConceptScore W4313454017C138626823 @default.
- W4313454017 hasConceptScore W4313454017C141231307 @default.
- W4313454017 hasConceptScore W4313454017C172680121 @default.
- W4313454017 hasConceptScore W4313454017C2777542201 @default.
- W4313454017 hasConceptScore W4313454017C2778194526 @default.
- W4313454017 hasConceptScore W4313454017C2778258057 @default.
- W4313454017 hasConceptScore W4313454017C2779234561 @default.
- W4313454017 hasConceptScore W4313454017C30481170 @default.
- W4313454017 hasConceptScore W4313454017C53226629 @default.
- W4313454017 hasConceptScore W4313454017C54355233 @default.
- W4313454017 hasConceptScore W4313454017C7602840 @default.
- W4313454017 hasConceptScore W4313454017C86803240 @default.
- W4313454017 hasIssue "1" @default.
- W4313454017 hasLocation W43134540171 @default.
- W4313454017 hasOpenAccess W4313454017 @default.
- W4313454017 hasPrimaryLocation W43134540171 @default.
- W4313454017 hasRelatedWork W2381261220 @default.
- W4313454017 hasRelatedWork W2753133924 @default.
- W4313454017 hasRelatedWork W2809184036 @default.
- W4313454017 hasRelatedWork W3024715581 @default.
- W4313454017 hasRelatedWork W3024821140 @default.
- W4313454017 hasRelatedWork W3085367571 @default.
- W4313454017 hasRelatedWork W3128499642 @default.
- W4313454017 hasRelatedWork W3138852869 @default.
- W4313454017 hasRelatedWork W3159997678 @default.
- W4313454017 hasRelatedWork W4224292776 @default.
- W4313454017 hasVolume "40" @default.
- W4313454017 isParatext "false" @default.
- W4313454017 isRetracted "false" @default.
- W4313454017 workType "article" @default.