Matches in SemOpenAlex for { <https://semopenalex.org/work/W2168607514> ?p ?o ?g. }
Showing items 1 to 84 of
84
with 100 items per page.
- W2168607514 endingPage "312" @default.
- W2168607514 startingPage "309" @default.
- W2168607514 abstract "Individuals with developmental delay who are found to have only fragile X premutations present an interpretive dilemma. The presence of the premutation could be an unrelated coincidence, or it could be a sign of mosaicism involving a full mutation in other tissues. To investigate three cases of this type, buccal epithelium was collected on cytology brushes for Southern blot analysis. In one notable case, the blood specimen of a boy with developmental delay was found to have a premutation of 0.1 extra kb, which was shown by PCR to be an allele of 60 ± 3 repeats. There was no trace of a full mutation. Mosaicism was investigated as an explanation for his developmental delay, although the condition was confounded by prematurity and other factors. The cheek epithelium DNA was found to contain the premutation, plus a methylated full mutation with expansions of 0.9 and 1.5 extra kb. The three populations were nearly equal in frequency but the 1.5 kb expansion was the most prominent. Regardless of whether this patient has clinical signs of fragile X syndrome, he illustrates that there can be gross tissue-specific differences in molecular subpopulations in mosaic individuals. Because brain and epithelium are more closely related embryonically than are brain and blood, cryptic full mutations in affected individuals may be evident in epithelial cells while being absent or difficult to detect in blood. This phenomenon may explain some atypical cases of the fragile X phenotype associated with premutations or near-normal DNA findings. © 1996 Wiley-Liss, Inc." @default.
- W2168607514 created "2016-06-24" @default.
- W2168607514 creator A5004249329 @default.
- W2168607514 creator A5020583018 @default.
- W2168607514 creator A5024807593 @default.
- W2168607514 creator A5030739411 @default.
- W2168607514 date "1996-08-09" @default.
- W2168607514 modified "2023-10-01" @default.
- W2168607514 title "A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood" @default.
- W2168607514 cites W1969114460 @default.
- W2168607514 cites W1972900207 @default.
- W2168607514 cites W1980146867 @default.
- W2168607514 cites W1996005232 @default.
- W2168607514 cites W2002780348 @default.
- W2168607514 cites W2008270359 @default.
- W2168607514 cites W2017901012 @default.
- W2168607514 cites W2022257681 @default.
- W2168607514 cites W2022504602 @default.
- W2168607514 cites W2040118711 @default.
- W2168607514 cites W2051013729 @default.
- W2168607514 cites W2074702132 @default.
- W2168607514 cites W2078021924 @default.
- W2168607514 cites W2086075525 @default.
- W2168607514 cites W2090302910 @default.
- W2168607514 cites W2091926916 @default.
- W2168607514 cites W2326122757 @default.
- W2168607514 doi "https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<309::aid-ajmg15>3.0.co;2-j" @default.
- W2168607514 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8844071" @default.
- W2168607514 hasPublicationYear "1996" @default.
- W2168607514 type Work @default.
- W2168607514 sameAs 2168607514 @default.
- W2168607514 citedByCount "25" @default.
- W2168607514 countsByYear W21686075142014 @default.
- W2168607514 countsByYear W21686075142016 @default.
- W2168607514 countsByYear W21686075142017 @default.
- W2168607514 countsByYear W21686075142019 @default.
- W2168607514 countsByYear W21686075142020 @default.
- W2168607514 countsByYear W21686075142021 @default.
- W2168607514 countsByYear W21686075142023 @default.
- W2168607514 crossrefType "journal-article" @default.
- W2168607514 hasAuthorship W2168607514A5004249329 @default.
- W2168607514 hasAuthorship W2168607514A5020583018 @default.
- W2168607514 hasAuthorship W2168607514A5024807593 @default.
- W2168607514 hasAuthorship W2168607514A5030739411 @default.
- W2168607514 hasConcept C104317684 @default.
- W2168607514 hasConcept C133307689 @default.
- W2168607514 hasConcept C153911025 @default.
- W2168607514 hasConcept C180754005 @default.
- W2168607514 hasConcept C2777630245 @default.
- W2168607514 hasConcept C501734568 @default.
- W2168607514 hasConcept C529295009 @default.
- W2168607514 hasConcept C54355233 @default.
- W2168607514 hasConcept C86803240 @default.
- W2168607514 hasConceptScore W2168607514C104317684 @default.
- W2168607514 hasConceptScore W2168607514C133307689 @default.
- W2168607514 hasConceptScore W2168607514C153911025 @default.
- W2168607514 hasConceptScore W2168607514C180754005 @default.
- W2168607514 hasConceptScore W2168607514C2777630245 @default.
- W2168607514 hasConceptScore W2168607514C501734568 @default.
- W2168607514 hasConceptScore W2168607514C529295009 @default.
- W2168607514 hasConceptScore W2168607514C54355233 @default.
- W2168607514 hasConceptScore W2168607514C86803240 @default.
- W2168607514 hasIssue "2" @default.
- W2168607514 hasLocation W21686075141 @default.
- W2168607514 hasLocation W21686075142 @default.
- W2168607514 hasOpenAccess W2168607514 @default.
- W2168607514 hasPrimaryLocation W21686075141 @default.
- W2168607514 hasRelatedWork W1997545174 @default.
- W2168607514 hasRelatedWork W2000064832 @default.
- W2168607514 hasRelatedWork W2022472203 @default.
- W2168607514 hasRelatedWork W2057739827 @default.
- W2168607514 hasRelatedWork W2063127778 @default.
- W2168607514 hasRelatedWork W2097927344 @default.
- W2168607514 hasRelatedWork W2148360016 @default.
- W2168607514 hasRelatedWork W2166567981 @default.
- W2168607514 hasRelatedWork W2965117567 @default.
- W2168607514 hasRelatedWork W3180195440 @default.
- W2168607514 hasVolume "64" @default.
- W2168607514 isParatext "false" @default.
- W2168607514 isRetracted "false" @default.
- W2168607514 magId "2168607514" @default.
- W2168607514 workType "article" @default.