FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3110678219> ?p ?o ?g. }

• W3110678219 abstract "Abstract Background Phenotypically discordant monozygotic twins (PDMZTs) offer a unique opportunity to study post‐zygotic genetic variation and provide insights into the linkage between genotype and phenotype. We report a comprehensive analysis of a pair of PDMZTs. Methods Dysmorphic features and delayed neuro‐motor development were observed in the proband, whereas her twin sister was phenotypically normal. Four tissues (blood, skin, hair follicles, and buccal mucosa) from both twins were studied using four complementary methods, including whole‐exome sequencing, karyotyping, array CGH, and SNP array. Results In the proband, tetrasomy 18p affecting all studied tissues except for blood was identified. Karyotyping of fibroblasts revealed isochromosome 18p [i(18p)] in all metaphases. The corresponding analysis of the phenotypically normal sister surprisingly revealed low‐level mosaicism (5.4%) for i(18p) in fibroblasts. Conclusion We emphasize that when mosaicism is suspected, multiple tissues should be studied and we highlight the usefulness of non‐invasive sampling of hair follicles and buccal mucosa as a convenient source of non‐mesoderm‐derived DNA, which complements the analysis of mesoderm using blood. Moreover, low‐level mosaic tetrasomy 18p is well tolerated and such low‐level mosaicism, readily detected by karyotyping, can be missed by other methods. Finally, mosaicism for low‐level tetrasomy 18p might be more common in the general population than it is currently recognized, due to detection limitations." @default.
• W3110678219 created "2020-12-21" @default.
• W3110678219 creator A5000940725 @default.
• W3110678219 creator A5008157457 @default.
• W3110678219 creator A5019246020 @default.
• W3110678219 creator A5022409913 @default.
• W3110678219 creator A5026335109 @default.
• W3110678219 creator A5034508292 @default.
• W3110678219 creator A5038958824 @default.
• W3110678219 creator A5039155220 @default.
• W3110678219 creator A5040276109 @default.
• W3110678219 creator A5040479770 @default.
• W3110678219 creator A5043172790 @default.
• W3110678219 creator A5047611443 @default.
• W3110678219 creator A5048640163 @default.
• W3110678219 creator A5048783189 @default.
• W3110678219 creator A5064491755 @default.
• W3110678219 creator A5078771117 @default.
• W3110678219 creator A5091273058 @default.
• W3110678219 date "2020-12-14" @default.
• W3110678219 modified "2023-10-18" @default.
• W3110678219 title "Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications" @default.
• W3110678219 cites W1964013868 @default.
• W3110678219 cites W1968933658 @default.
• W3110678219 cites W1979198789 @default.
• W3110678219 cites W1989803725 @default.
• W3110678219 cites W1991634131 @default.
• W3110678219 cites W1997111703 @default.
• W3110678219 cites W2022102389 @default.
• W3110678219 cites W2029809034 @default.
• W3110678219 cites W2035074075 @default.
• W3110678219 cites W2048282176 @default.
• W3110678219 cites W2097411856 @default.
• W3110678219 cites W2102187103 @default.
• W3110678219 cites W2130724792 @default.
• W3110678219 cites W2143973004 @default.
• W3110678219 cites W2162308720 @default.
• W3110678219 cites W2566323743 @default.
• W3110678219 cites W2774141552 @default.
• W3110678219 cites W2804888774 @default.
• W3110678219 cites W2900363849 @default.
• W3110678219 cites W2952507590 @default.
• W3110678219 cites W3009001796 @default.
• W3110678219 cites W953954205 @default.
• W3110678219 doi "https://doi.org/10.1002/mgg3.1526" @default.
• W3110678219 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7963419" @default.
• W3110678219 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33319479" @default.
• W3110678219 hasPublicationYear "2020" @default.
• W3110678219 type Work @default.
• W3110678219 sameAs 3110678219 @default.
• W3110678219 citedByCount "6" @default.
• W3110678219 countsByYear W31106782192021 @default.
• W3110678219 countsByYear W31106782192022 @default.
• W3110678219 countsByYear W31106782192023 @default.
• W3110678219 crossrefType "journal-article" @default.
• W3110678219 hasAuthorship W3110678219A5000940725 @default.
• W3110678219 hasAuthorship W3110678219A5008157457 @default.
• W3110678219 hasAuthorship W3110678219A5019246020 @default.
• W3110678219 hasAuthorship W3110678219A5022409913 @default.
• W3110678219 hasAuthorship W3110678219A5026335109 @default.
• W3110678219 hasAuthorship W3110678219A5034508292 @default.
• W3110678219 hasAuthorship W3110678219A5038958824 @default.
• W3110678219 hasAuthorship W3110678219A5039155220 @default.
• W3110678219 hasAuthorship W3110678219A5040276109 @default.
• W3110678219 hasAuthorship W3110678219A5040479770 @default.
• W3110678219 hasAuthorship W3110678219A5043172790 @default.
• W3110678219 hasAuthorship W3110678219A5047611443 @default.
• W3110678219 hasAuthorship W3110678219A5048640163 @default.
• W3110678219 hasAuthorship W3110678219A5048783189 @default.
• W3110678219 hasAuthorship W3110678219A5064491755 @default.
• W3110678219 hasAuthorship W3110678219A5078771117 @default.
• W3110678219 hasAuthorship W3110678219A5091273058 @default.
• W3110678219 hasBestOaLocation W31106782191 @default.
• W3110678219 hasConcept C104317684 @default.
• W3110678219 hasConcept C122060243 @default.
• W3110678219 hasConcept C135763542 @default.
• W3110678219 hasConcept C153209595 @default.
• W3110678219 hasConcept C188997412 @default.
• W3110678219 hasConcept C2778249689 @default.
• W3110678219 hasConcept C30481170 @default.
• W3110678219 hasConcept C501734568 @default.
• W3110678219 hasConcept C53226629 @default.
• W3110678219 hasConcept C54355233 @default.
• W3110678219 hasConcept C57269778 @default.
• W3110678219 hasConcept C86803240 @default.
• W3110678219 hasConceptScore W3110678219C104317684 @default.
• W3110678219 hasConceptScore W3110678219C122060243 @default.
• W3110678219 hasConceptScore W3110678219C135763542 @default.
• W3110678219 hasConceptScore W3110678219C153209595 @default.
• W3110678219 hasConceptScore W3110678219C188997412 @default.
• W3110678219 hasConceptScore W3110678219C2778249689 @default.
• W3110678219 hasConceptScore W3110678219C30481170 @default.
• W3110678219 hasConceptScore W3110678219C501734568 @default.
• W3110678219 hasConceptScore W3110678219C53226629 @default.
• W3110678219 hasConceptScore W3110678219C54355233 @default.
• W3110678219 hasConceptScore W3110678219C57269778 @default.
• W3110678219 hasConceptScore W3110678219C86803240 @default.
• W3110678219 hasFunder F4320321491 @default.
• W3110678219 hasFunder F4320322581 @default.
• W3110678219 hasFunder F4320325247 @default.

• next