Matches in SemOpenAlex for { <https://semopenalex.org/work/W4283711271> ?p ?o ?g. }
Showing items 1 to 69 of
69
with 100 items per page.
- W4283711271 endingPage "6" @default.
- W4283711271 startingPage "6" @default.
- W4283711271 abstract "Molecular diagnostic testing using DNA from saliva specimens markedly increased recently due to the ease of sample collection, compared to peripheral blood, during the COVID-19 pandemic. Published literature suggests that DNA from saliva is primarily composed of epithelial cells (70-90%), with the remainder being primarily leukocytes (10-30%). Here, we describe a case followed by our clinicians since 2007 characterized by developmental delay, autism, a somewhat coarse face with full cheeks, up-slanting palpebral fissures, thin corpus callosum, and a full-scale IQ of 60. This patient had an extensive work-up including high-resolution blood chromosome analysis, FISH for 22q microdeletion, three separate microarrays (various platforms), FMR1 molecular analysis, urine oligosaccharides analysis, an autism gene panel by NGS, and whole-exome sequencing, none of which identified a satisfactory diagnosis. These tests were performed on two peripheral blood samples collected at different times. Recently, a new microarray was ordered on a saliva sample from this patient, and an apparently non-mosaic gain of 18p was detected. The possibility of a sample swap was eliminated by comparing the SNP genotype of the saliva sample to the previously tested blood sample. The limit of detection for mosaicism in genomic microarrays is around 20%, so it is possible that the 18p duplication was present at a level undetectable by microarray in the peripheral blood samples. This case suggests that the differences between DNA obtained from saliva and peripheral blood may be, in some cases, more drastic than previously recognized. By testing primarily with DNA from peripheral blood, significant mosaic abnormalities may go undetected." @default.
- W4283711271 created "2022-06-30" @default.
- W4283711271 creator A5010882965 @default.
- W4283711271 creator A5018822381 @default.
- W4283711271 creator A5029240600 @default.
- W4283711271 creator A5056984117 @default.
- W4283711271 date "2022-06-01" @default.
- W4283711271 modified "2023-09-30" @default.
- W4283711271 title "18. Trisomy 18p detected in DNA from saliva but absent in DNA from blood" @default.
- W4283711271 doi "https://doi.org/10.1016/j.cancergen.2022.05.021" @default.
- W4283711271 hasPublicationYear "2022" @default.
- W4283711271 type Work @default.
- W4283711271 citedByCount "0" @default.
- W4283711271 crossrefType "journal-article" @default.
- W4283711271 hasAuthorship W4283711271A5010882965 @default.
- W4283711271 hasAuthorship W4283711271A5018822381 @default.
- W4283711271 hasAuthorship W4283711271A5029240600 @default.
- W4283711271 hasAuthorship W4283711271A5056984117 @default.
- W4283711271 hasConcept C104317684 @default.
- W4283711271 hasConcept C118552586 @default.
- W4283711271 hasConcept C122060243 @default.
- W4283711271 hasConcept C135763542 @default.
- W4283711271 hasConcept C153209595 @default.
- W4283711271 hasConcept C153911025 @default.
- W4283711271 hasConcept C167871757 @default.
- W4283711271 hasConcept C17757408 @default.
- W4283711271 hasConcept C205778803 @default.
- W4283711271 hasConcept C2776229224 @default.
- W4283711271 hasConcept C504460877 @default.
- W4283711271 hasConcept C54355233 @default.
- W4283711271 hasConcept C552990157 @default.
- W4283711271 hasConcept C55493867 @default.
- W4283711271 hasConcept C71924100 @default.
- W4283711271 hasConcept C86803240 @default.
- W4283711271 hasConceptScore W4283711271C104317684 @default.
- W4283711271 hasConceptScore W4283711271C118552586 @default.
- W4283711271 hasConceptScore W4283711271C122060243 @default.
- W4283711271 hasConceptScore W4283711271C135763542 @default.
- W4283711271 hasConceptScore W4283711271C153209595 @default.
- W4283711271 hasConceptScore W4283711271C153911025 @default.
- W4283711271 hasConceptScore W4283711271C167871757 @default.
- W4283711271 hasConceptScore W4283711271C17757408 @default.
- W4283711271 hasConceptScore W4283711271C205778803 @default.
- W4283711271 hasConceptScore W4283711271C2776229224 @default.
- W4283711271 hasConceptScore W4283711271C504460877 @default.
- W4283711271 hasConceptScore W4283711271C54355233 @default.
- W4283711271 hasConceptScore W4283711271C552990157 @default.
- W4283711271 hasConceptScore W4283711271C55493867 @default.
- W4283711271 hasConceptScore W4283711271C71924100 @default.
- W4283711271 hasConceptScore W4283711271C86803240 @default.
- W4283711271 hasLocation W42837112711 @default.
- W4283711271 hasOpenAccess W4283711271 @default.
- W4283711271 hasPrimaryLocation W42837112711 @default.
- W4283711271 hasRelatedWork W1564057983 @default.
- W4283711271 hasRelatedWork W1964079064 @default.
- W4283711271 hasRelatedWork W1984835638 @default.
- W4283711271 hasRelatedWork W2038442313 @default.
- W4283711271 hasRelatedWork W2042626368 @default.
- W4283711271 hasRelatedWork W2110689133 @default.
- W4283711271 hasRelatedWork W2122767606 @default.
- W4283711271 hasRelatedWork W2160724951 @default.
- W4283711271 hasRelatedWork W2467748693 @default.
- W4283711271 hasRelatedWork W2963776613 @default.
- W4283711271 hasVolume "264-265" @default.
- W4283711271 isParatext "false" @default.
- W4283711271 isRetracted "false" @default.
- W4283711271 workType "article" @default.