Matches in SemOpenAlex for { <https://semopenalex.org/work/W2048143921> ?p ?o ?g. }
Showing items 1 to 77 of
77
with 100 items per page.
- W2048143921 abstract "An 11-month-old boy with a pattern of dysmorphic signs, an atrial septal defect, right inguinal hernia, bilateral undescended testes, bilateral urinary reflux, right renal dysplasia, and developmental delay had an abnormal chromosome 11 with additional material of unknown origin attached to the long arm in his karyotype. The paternal karyotype was normal 46,XY, while the mother's karyotype was 46,XX,t(2;11)(q35;q24.2). Thus, a reciprocal terminal exchange was assumed resulting in duplication of distal 2q material and a small subterminal 11q deletion. However, application of subtelomeric fluorescence in situ hybridization (FISH) probes indicated that the translocation was not a terminal reciprocal exchange, but was interstitial at least for one of the chromosomes, which would be highly unusual since most interstitial translocations are non-reciprocal. Based on the results of FISH and microsatellite marker examinations, the designation of the breakpoints and thus of the deleted and duplicated segments had to be revised. The findings have implications for karyotype-phenotype correlation." @default.
- W2048143921 created "2016-06-24" @default.
- W2048143921 creator A5037194727 @default.
- W2048143921 creator A5053986007 @default.
- W2048143921 creator A5072196214 @default.
- W2048143921 creator A5084640647 @default.
- W2048143921 date "2005-04-04" @default.
- W2048143921 modified "2023-10-14" @default.
- W2048143921 title "An unusual reciprocal translocation detected by subtelomeric FISH: Interstitial and not terminal" @default.
- W2048143921 cites W1984847337 @default.
- W2048143921 cites W1989160093 @default.
- W2048143921 cites W1990723170 @default.
- W2048143921 cites W1991401698 @default.
- W2048143921 cites W2007563097 @default.
- W2048143921 cites W2036880391 @default.
- W2048143921 cites W2064935346 @default.
- W2048143921 cites W2069160510 @default.
- W2048143921 cites W2071721857 @default.
- W2048143921 cites W2080439751 @default.
- W2048143921 cites W2097376889 @default.
- W2048143921 cites W2106982327 @default.
- W2048143921 cites W2128649230 @default.
- W2048143921 cites W2129755545 @default.
- W2048143921 cites W2132882120 @default.
- W2048143921 cites W2159656070 @default.
- W2048143921 cites W2316665143 @default.
- W2048143921 doi "https://doi.org/10.1002/ajmg.a.30683" @default.
- W2048143921 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15809996" @default.
- W2048143921 hasPublicationYear "2005" @default.
- W2048143921 type Work @default.
- W2048143921 sameAs 2048143921 @default.
- W2048143921 citedByCount "5" @default.
- W2048143921 crossrefType "journal-article" @default.
- W2048143921 hasAuthorship W2048143921A5037194727 @default.
- W2048143921 hasAuthorship W2048143921A5053986007 @default.
- W2048143921 hasAuthorship W2048143921A5072196214 @default.
- W2048143921 hasAuthorship W2048143921A5084640647 @default.
- W2048143921 hasConcept C104317684 @default.
- W2048143921 hasConcept C138626823 @default.
- W2048143921 hasConcept C206936463 @default.
- W2048143921 hasConcept C23069440 @default.
- W2048143921 hasConcept C2777542201 @default.
- W2048143921 hasConcept C30481170 @default.
- W2048143921 hasConcept C53226629 @default.
- W2048143921 hasConcept C54355233 @default.
- W2048143921 hasConcept C7602840 @default.
- W2048143921 hasConcept C86546924 @default.
- W2048143921 hasConcept C86803240 @default.
- W2048143921 hasConceptScore W2048143921C104317684 @default.
- W2048143921 hasConceptScore W2048143921C138626823 @default.
- W2048143921 hasConceptScore W2048143921C206936463 @default.
- W2048143921 hasConceptScore W2048143921C23069440 @default.
- W2048143921 hasConceptScore W2048143921C2777542201 @default.
- W2048143921 hasConceptScore W2048143921C30481170 @default.
- W2048143921 hasConceptScore W2048143921C53226629 @default.
- W2048143921 hasConceptScore W2048143921C54355233 @default.
- W2048143921 hasConceptScore W2048143921C7602840 @default.
- W2048143921 hasConceptScore W2048143921C86546924 @default.
- W2048143921 hasConceptScore W2048143921C86803240 @default.
- W2048143921 hasLocation W20481439211 @default.
- W2048143921 hasLocation W20481439212 @default.
- W2048143921 hasOpenAccess W2048143921 @default.
- W2048143921 hasPrimaryLocation W20481439211 @default.
- W2048143921 hasRelatedWork W1965198658 @default.
- W2048143921 hasRelatedWork W1976522414 @default.
- W2048143921 hasRelatedWork W2030670272 @default.
- W2048143921 hasRelatedWork W2047750426 @default.
- W2048143921 hasRelatedWork W2048143921 @default.
- W2048143921 hasRelatedWork W2049306485 @default.
- W2048143921 hasRelatedWork W2084055563 @default.
- W2048143921 hasRelatedWork W2136211437 @default.
- W2048143921 hasRelatedWork W2137668971 @default.
- W2048143921 hasRelatedWork W2775060974 @default.
- W2048143921 isParatext "false" @default.
- W2048143921 isRetracted "false" @default.
- W2048143921 magId "2048143921" @default.
- W2048143921 workType "article" @default.