Matches in SemOpenAlex for { <https://semopenalex.org/work/W2079406834> ?p ?o ?g. }
Showing items 1 to 92 of
92
with 100 items per page.
- W2079406834 endingPage "283" @default.
- W2079406834 startingPage "279" @default.
- W2079406834 abstract "Prader–Willi syndrome (PWS) is caused by the lack of paternal expression of imprinted genes in the human chromosomal region 15q11.2–q13.2, which can be due to an interstitial deletion at 15q11.2–q13 of paternal origin (65–75%), maternal uniparental disomy (matUPD) of chromosome 15 (20–30%), or an imprinting defect (1–3%). The majority of PWS-associated matUPD15 cases represent a complete heterodisomy of chromosome 15 or a mixture of hetero- and isodisomic regions across the chromosome 15. Pure maternal isodisomy is observed in only a few matUPD15 patients. Here we report a case of an 18-year-old boy with some clinical features of Prader–Willi syndrome, such as overweight, muscular hypotonia, facial dysmorphism and psychiatric problems, but there was no reason to suspect PWS in the patient based solely on the phenotype estimation. However, chromosomal microarray analysis (CMA) revealed mosaic loss of heterozygosity of the entire chromosome 15. Methylation-specific multiplex ligation-dependant probe amplification (MS-MLPA) analysis showed hypermethylation of the SNRPN and NDN genes in the PWS/AS critical region of chromosome 15 in this patient. Taking into consideration the MS-MLPA results and the presence of PWS features in the patient, we concluded that it was matUPD15, although the patient's parents were not enrolled in the study. According to CMA and karyotyping, no trisomic or monosomic cells were present. To the best of our knowledge, only two PWS cases with mosaic maternal isodisomy 15 and without trisomic/monosomic cell lines have been reported so far." @default.
- W2079406834 created "2016-06-24" @default.
- W2079406834 creator A5000472334 @default.
- W2079406834 creator A5017542310 @default.
- W2079406834 creator A5021203354 @default.
- W2079406834 creator A5038592916 @default.
- W2079406834 creator A5047694496 @default.
- W2079406834 creator A5075559839 @default.
- W2079406834 date "2014-05-01" @default.
- W2079406834 modified "2023-10-18" @default.
- W2079406834 title "Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader–Willi syndrome" @default.
- W2079406834 cites W1551601636 @default.
- W2079406834 cites W1979646112 @default.
- W2079406834 cites W1990155888 @default.
- W2079406834 cites W2012049162 @default.
- W2079406834 cites W2023779602 @default.
- W2079406834 cites W2052721941 @default.
- W2079406834 cites W2060155592 @default.
- W2079406834 cites W2065899830 @default.
- W2079406834 cites W2095810742 @default.
- W2079406834 cites W2102187103 @default.
- W2079406834 cites W2104694100 @default.
- W2079406834 cites W2135284044 @default.
- W2079406834 cites W2147892951 @default.
- W2079406834 doi "https://doi.org/10.1016/j.ejmg.2014.03.007" @default.
- W2079406834 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24704109" @default.
- W2079406834 hasPublicationYear "2014" @default.
- W2079406834 type Work @default.
- W2079406834 sameAs 2079406834 @default.
- W2079406834 citedByCount "4" @default.
- W2079406834 countsByYear W20794068342014 @default.
- W2079406834 countsByYear W20794068342015 @default.
- W2079406834 countsByYear W20794068342018 @default.
- W2079406834 crossrefType "journal-article" @default.
- W2079406834 hasAuthorship W2079406834A5000472334 @default.
- W2079406834 hasAuthorship W2079406834A5017542310 @default.
- W2079406834 hasAuthorship W2079406834A5021203354 @default.
- W2079406834 hasAuthorship W2079406834A5038592916 @default.
- W2079406834 hasAuthorship W2079406834A5047694496 @default.
- W2079406834 hasAuthorship W2079406834A5075559839 @default.
- W2079406834 hasConcept C104317684 @default.
- W2079406834 hasConcept C120599132 @default.
- W2079406834 hasConcept C150194340 @default.
- W2079406834 hasConcept C165237769 @default.
- W2079406834 hasConcept C190727270 @default.
- W2079406834 hasConcept C201492766 @default.
- W2079406834 hasConcept C2778691456 @default.
- W2079406834 hasConcept C2779672484 @default.
- W2079406834 hasConcept C2780332060 @default.
- W2079406834 hasConcept C30481170 @default.
- W2079406834 hasConcept C36823959 @default.
- W2079406834 hasConcept C53226629 @default.
- W2079406834 hasConcept C54355233 @default.
- W2079406834 hasConcept C86803240 @default.
- W2079406834 hasConcept C94715292 @default.
- W2079406834 hasConceptScore W2079406834C104317684 @default.
- W2079406834 hasConceptScore W2079406834C120599132 @default.
- W2079406834 hasConceptScore W2079406834C150194340 @default.
- W2079406834 hasConceptScore W2079406834C165237769 @default.
- W2079406834 hasConceptScore W2079406834C190727270 @default.
- W2079406834 hasConceptScore W2079406834C201492766 @default.
- W2079406834 hasConceptScore W2079406834C2778691456 @default.
- W2079406834 hasConceptScore W2079406834C2779672484 @default.
- W2079406834 hasConceptScore W2079406834C2780332060 @default.
- W2079406834 hasConceptScore W2079406834C30481170 @default.
- W2079406834 hasConceptScore W2079406834C36823959 @default.
- W2079406834 hasConceptScore W2079406834C53226629 @default.
- W2079406834 hasConceptScore W2079406834C54355233 @default.
- W2079406834 hasConceptScore W2079406834C86803240 @default.
- W2079406834 hasConceptScore W2079406834C94715292 @default.
- W2079406834 hasIssue "6" @default.
- W2079406834 hasLocation W20794068341 @default.
- W2079406834 hasLocation W20794068342 @default.
- W2079406834 hasOpenAccess W2079406834 @default.
- W2079406834 hasPrimaryLocation W20794068341 @default.
- W2079406834 hasRelatedWork W1494956959 @default.
- W2079406834 hasRelatedWork W1966840791 @default.
- W2079406834 hasRelatedWork W1970095805 @default.
- W2079406834 hasRelatedWork W2038524035 @default.
- W2079406834 hasRelatedWork W2062934156 @default.
- W2079406834 hasRelatedWork W2073757377 @default.
- W2079406834 hasRelatedWork W2079406834 @default.
- W2079406834 hasRelatedWork W2080191248 @default.
- W2079406834 hasRelatedWork W2154032366 @default.
- W2079406834 hasRelatedWork W3190367924 @default.
- W2079406834 hasVolume "57" @default.
- W2079406834 isParatext "false" @default.
- W2079406834 isRetracted "false" @default.
- W2079406834 magId "2079406834" @default.
- W2079406834 workType "article" @default.