Matches in SemOpenAlex for { <https://semopenalex.org/work/W28102684> ?p ?o ?g. }
Showing items 1 to 67 of
67
with 100 items per page.
- W28102684 endingPage "9" @default.
- W28102684 startingPage "117" @default.
- W28102684 abstract "A young unrelated Indian couple produced a baby who had an unusual facies, marked abdominal distension and muscular hypotonia. At 8 weeks cytogenetic investigation revealed what appeared to be trisomy-21. Because this did not agree with the clinical signs the parents were tested and the mother was found to have a balanced translocation between chromosomes 12 and 14; her karyotype was 46,XX,rcp(12; 14)(p11; q11) and it was realized that her son had inherited her translocation chromosome involving the short arms of chromosomes 12 and 14. He thus had trisomy-12p. The present case and 10 others reported in the literature confirm that trisomy-12p produces a recognizable syndrome. Parents carrying a balanced translocation have a 50:50 risk of producing an abnormal infant at every pregnancy because both the trisomic and monosomic conditions may be viable. Amniocentesis for fetal karyotyping must be recommended to the couples concerned." @default.
- W28102684 created "2016-06-24" @default.
- W28102684 creator A5028218754 @default.
- W28102684 creator A5032173833 @default.
- W28102684 creator A5033868323 @default.
- W28102684 creator A5067454810 @default.
- W28102684 date "1980-07-19" @default.
- W28102684 modified "2023-09-23" @default.
- W28102684 title "Trisomy-12p syndrome: Family study and prenatal diagnosis." @default.
- W28102684 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7404198" @default.
- W28102684 hasPublicationYear "1980" @default.
- W28102684 type Work @default.
- W28102684 sameAs 28102684 @default.
- W28102684 citedByCount "1" @default.
- W28102684 countsByYear W281026842014 @default.
- W28102684 crossrefType "journal-article" @default.
- W28102684 hasAuthorship W28102684A5028218754 @default.
- W28102684 hasAuthorship W28102684A5032173833 @default.
- W28102684 hasAuthorship W28102684A5033868323 @default.
- W28102684 hasAuthorship W28102684A5067454810 @default.
- W28102684 hasConcept C104317684 @default.
- W28102684 hasConcept C131872663 @default.
- W28102684 hasConcept C138626823 @default.
- W28102684 hasConcept C172680121 @default.
- W28102684 hasConcept C2776229224 @default.
- W28102684 hasConcept C2777966818 @default.
- W28102684 hasConcept C2778258057 @default.
- W28102684 hasConcept C2779234561 @default.
- W28102684 hasConcept C30481170 @default.
- W28102684 hasConcept C53226629 @default.
- W28102684 hasConcept C54355233 @default.
- W28102684 hasConcept C71924100 @default.
- W28102684 hasConcept C86803240 @default.
- W28102684 hasConceptScore W28102684C104317684 @default.
- W28102684 hasConceptScore W28102684C131872663 @default.
- W28102684 hasConceptScore W28102684C138626823 @default.
- W28102684 hasConceptScore W28102684C172680121 @default.
- W28102684 hasConceptScore W28102684C2776229224 @default.
- W28102684 hasConceptScore W28102684C2777966818 @default.
- W28102684 hasConceptScore W28102684C2778258057 @default.
- W28102684 hasConceptScore W28102684C2779234561 @default.
- W28102684 hasConceptScore W28102684C30481170 @default.
- W28102684 hasConceptScore W28102684C53226629 @default.
- W28102684 hasConceptScore W28102684C54355233 @default.
- W28102684 hasConceptScore W28102684C71924100 @default.
- W28102684 hasConceptScore W28102684C86803240 @default.
- W28102684 hasIssue "3" @default.
- W28102684 hasLocation W281026841 @default.
- W28102684 hasOpenAccess W28102684 @default.
- W28102684 hasPrimaryLocation W281026841 @default.
- W28102684 hasRelatedWork W2016045954 @default.
- W28102684 hasRelatedWork W2025674638 @default.
- W28102684 hasRelatedWork W2094990472 @default.
- W28102684 hasRelatedWork W2132819030 @default.
- W28102684 hasRelatedWork W2280919268 @default.
- W28102684 hasRelatedWork W2347371118 @default.
- W28102684 hasRelatedWork W2372080886 @default.
- W28102684 hasRelatedWork W2372914060 @default.
- W28102684 hasRelatedWork W2382823987 @default.
- W28102684 hasRelatedWork W3147621896 @default.
- W28102684 hasVolume "58" @default.
- W28102684 isParatext "false" @default.
- W28102684 isRetracted "false" @default.
- W28102684 magId "28102684" @default.
- W28102684 workType "article" @default.