Matches in SemOpenAlex for { <https://semopenalex.org/work/W1981335820> ?p ?o ?g. }
Showing items 1 to 83 of
83
with 100 items per page.
- W1981335820 endingPage "458" @default.
- W1981335820 startingPage "454" @default.
- W1981335820 abstract "A 32-year-old pregnant woman was referred to our genetic counselling because of recurrent trisomy 21 in the family. Analysis of amniotic fluid cell culture revealed karyotype 47,XY+21 of the fetus.Karyotyping and molecular analysis were undertaken in the fetal and parental samples to determine the origin of the extra chromosome 21.Both parents had a normal blood karyotype. Microsatellite marker analysis showed maternal origin of the fetal extra chromosome 21. As the mother showed homozygosity for all investigated markers on chromosome 21, we also tested her family. We detected the same homozygosity in some family members which was consistent with isodisomy of the chromosome 21 caused by uniparental disomy (UPD).Here we report on a family in which multiple aneuploid conceptions occurred with trisomy 21, and molecular analysis showed that the euploidy of the investigated healthy family members is due to UPD21. This observation stresses the importance of prenatal cytogenetic and molecular analysis in case of parental UPD." @default.
- W1981335820 created "2016-06-24" @default.
- W1981335820 creator A5002214627 @default.
- W1981335820 creator A5009939200 @default.
- W1981335820 creator A5014556188 @default.
- W1981335820 creator A5017952625 @default.
- W1981335820 creator A5044635006 @default.
- W1981335820 creator A5066442144 @default.
- W1981335820 date "2003-01-01" @default.
- W1981335820 modified "2023-10-17" @default.
- W1981335820 title "Recurrent Trisomy 21 and Uniparental Disomy 21 in a Family" @default.
- W1981335820 cites W2008346671 @default.
- W1981335820 cites W2045769675 @default.
- W1981335820 cites W2057279203 @default.
- W1981335820 cites W2065588035 @default.
- W1981335820 cites W2090427377 @default.
- W1981335820 cites W2135284044 @default.
- W1981335820 cites W2170505368 @default.
- W1981335820 cites W4243394855 @default.
- W1981335820 doi "https://doi.org/10.1159/000073142" @default.
- W1981335820 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/14564119" @default.
- W1981335820 hasPublicationYear "2003" @default.
- W1981335820 type Work @default.
- W1981335820 sameAs 1981335820 @default.
- W1981335820 citedByCount "9" @default.
- W1981335820 countsByYear W19813358202013 @default.
- W1981335820 countsByYear W19813358202014 @default.
- W1981335820 countsByYear W19813358202020 @default.
- W1981335820 countsByYear W19813358202022 @default.
- W1981335820 countsByYear W19813358202023 @default.
- W1981335820 crossrefType "journal-article" @default.
- W1981335820 hasAuthorship W1981335820A5002214627 @default.
- W1981335820 hasAuthorship W1981335820A5009939200 @default.
- W1981335820 hasAuthorship W1981335820A5014556188 @default.
- W1981335820 hasAuthorship W1981335820A5017952625 @default.
- W1981335820 hasAuthorship W1981335820A5044635006 @default.
- W1981335820 hasAuthorship W1981335820A5066442144 @default.
- W1981335820 hasConcept C104317684 @default.
- W1981335820 hasConcept C172680121 @default.
- W1981335820 hasConcept C2776229224 @default.
- W1981335820 hasConcept C2778258057 @default.
- W1981335820 hasConcept C2779234561 @default.
- W1981335820 hasConcept C2779672484 @default.
- W1981335820 hasConcept C2780332060 @default.
- W1981335820 hasConcept C30481170 @default.
- W1981335820 hasConcept C53226629 @default.
- W1981335820 hasConcept C54355233 @default.
- W1981335820 hasConcept C71924100 @default.
- W1981335820 hasConcept C86803240 @default.
- W1981335820 hasConceptScore W1981335820C104317684 @default.
- W1981335820 hasConceptScore W1981335820C172680121 @default.
- W1981335820 hasConceptScore W1981335820C2776229224 @default.
- W1981335820 hasConceptScore W1981335820C2778258057 @default.
- W1981335820 hasConceptScore W1981335820C2779234561 @default.
- W1981335820 hasConceptScore W1981335820C2779672484 @default.
- W1981335820 hasConceptScore W1981335820C2780332060 @default.
- W1981335820 hasConceptScore W1981335820C30481170 @default.
- W1981335820 hasConceptScore W1981335820C53226629 @default.
- W1981335820 hasConceptScore W1981335820C54355233 @default.
- W1981335820 hasConceptScore W1981335820C71924100 @default.
- W1981335820 hasConceptScore W1981335820C86803240 @default.
- W1981335820 hasIssue "6" @default.
- W1981335820 hasLocation W19813358201 @default.
- W1981335820 hasLocation W19813358202 @default.
- W1981335820 hasOpenAccess W1981335820 @default.
- W1981335820 hasPrimaryLocation W19813358201 @default.
- W1981335820 hasRelatedWork W1562490318 @default.
- W1981335820 hasRelatedWork W1971551469 @default.
- W1981335820 hasRelatedWork W1981761453 @default.
- W1981335820 hasRelatedWork W2025196417 @default.
- W1981335820 hasRelatedWork W2049967017 @default.
- W1981335820 hasRelatedWork W2110804222 @default.
- W1981335820 hasRelatedWork W2333266556 @default.
- W1981335820 hasRelatedWork W2409825949 @default.
- W1981335820 hasRelatedWork W2742981305 @default.
- W1981335820 hasRelatedWork W4247613688 @default.
- W1981335820 hasVolume "18" @default.
- W1981335820 isParatext "false" @default.
- W1981335820 isRetracted "false" @default.
- W1981335820 magId "1981335820" @default.
- W1981335820 workType "article" @default.