FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2047694920> ?p ?o ?g. }

• W2047694920 endingPage "77" @default.
• W2047694920 startingPage "72" @default.
• W2047694920 abstract "We report a case of an X;1 translocation in a 9-month-old female infant with mild dysmorphic features and developmental delay. High-resolution chromosome analysis revealed a de novo, unbalanced translocation between chromosomes X and 1 [46,X,der(X),t(X;1)(q28;q32.1)]. Breakpoints on the derivative X and the size of the translocated segment have been defined by fluorescence in situ hybridization (FISH) with Xq and 1q specific probes. The rearrangement in this patient results in monosomy for Xq28-qter and trisomy for 1q32.1-qter. Replication studies demonstrated late replication of the derivative X in 80% of the observed cells, with the exception of 20% of the cells where X inactivation failed to spread into the translocated 1q segment. Patients with pure trisomy for the distal segment of 1q present a considerably more severe phenotype compared to that seen in our patient, including facial dysmorphisms, urogenital and cardiac anomalies. We suggest that the absence of many of the characteristic features for trisomy 1q in our patient, may reflect a mosaic pattern of inactivation of the translocated autosomal segment on the derivative X chromosome." @default.
• W2047694920 created "2016-06-24" @default.
• W2047694920 creator A5012430171 @default.
• W2047694920 creator A5021179394 @default.
• W2047694920 creator A5023603789 @default.
• W2047694920 creator A5041301762 @default.
• W2047694920 creator A5088137738 @default.
• W2047694920 creator A5090317029 @default.
• W2047694920 date "2004-01-01" @default.
• W2047694920 modified "2023-10-14" @default.
• W2047694920 title "Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]" @default.
• W2047694920 cites W1963811581 @default.
• W2047694920 cites W1965076304 @default.
• W2047694920 cites W1969336370 @default.
• W2047694920 cites W1985437206 @default.
• W2047694920 cites W1988626574 @default.
• W2047694920 cites W1990511818 @default.
• W2047694920 cites W1992029073 @default.
• W2047694920 cites W1993206066 @default.
• W2047694920 cites W1994766660 @default.
• W2047694920 cites W1995263562 @default.
• W2047694920 cites W1996309079 @default.
• W2047694920 cites W2000939708 @default.
• W2047694920 cites W2003538061 @default.
• W2047694920 cites W2035550797 @default.
• W2047694920 cites W2038442515 @default.
• W2047694920 cites W2040624896 @default.
• W2047694920 cites W2054897842 @default.
• W2047694920 cites W2065615806 @default.
• W2047694920 cites W2068833092 @default.
• W2047694920 cites W2076500639 @default.
• W2047694920 cites W2091411843 @default.
• W2047694920 cites W2092787490 @default.
• W2047694920 cites W2125289969 @default.
• W2047694920 cites W2130001787 @default.
• W2047694920 cites W2134816165 @default.
• W2047694920 cites W2150601517 @default.
• W2047694920 cites W2153572643 @default.
• W2047694920 cites W2159542125 @default.
• W2047694920 cites W2254994903 @default.
• W2047694920 cites W2317609376 @default.
• W2047694920 cites W4238656497 @default.
• W2047694920 cites W4378711309 @default.
• W2047694920 doi "https://doi.org/10.1002/ajmg.a.30094" @default.
• W2047694920 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15211662" @default.
• W2047694920 hasPublicationYear "2004" @default.
• W2047694920 type Work @default.
• W2047694920 sameAs 2047694920 @default.
• W2047694920 citedByCount "11" @default.
• W2047694920 countsByYear W20476949202013 @default.
• W2047694920 countsByYear W20476949202014 @default.
• W2047694920 countsByYear W20476949202015 @default.
• W2047694920 countsByYear W20476949202021 @default.
• W2047694920 countsByYear W20476949202022 @default.
• W2047694920 crossrefType "journal-article" @default.
• W2047694920 hasAuthorship W2047694920A5012430171 @default.
• W2047694920 hasAuthorship W2047694920A5021179394 @default.
• W2047694920 hasAuthorship W2047694920A5023603789 @default.
• W2047694920 hasAuthorship W2047694920A5041301762 @default.
• W2047694920 hasAuthorship W2047694920A5088137738 @default.
• W2047694920 hasAuthorship W2047694920A5090317029 @default.
• W2047694920 hasConcept C104317684 @default.
• W2047694920 hasConcept C127716648 @default.
• W2047694920 hasConcept C138626823 @default.
• W2047694920 hasConcept C15151550 @default.
• W2047694920 hasConcept C153911025 @default.
• W2047694920 hasConcept C206936463 @default.
• W2047694920 hasConcept C2776229224 @default.
• W2047694920 hasConcept C2777082864 @default.
• W2047694920 hasConcept C2777542201 @default.
• W2047694920 hasConcept C2779142324 @default.
• W2047694920 hasConcept C30481170 @default.
• W2047694920 hasConcept C35158069 @default.
• W2047694920 hasConcept C53226629 @default.
• W2047694920 hasConcept C54355233 @default.
• W2047694920 hasConcept C54815482 @default.
• W2047694920 hasConcept C86546924 @default.
• W2047694920 hasConcept C86803240 @default.
• W2047694920 hasConceptScore W2047694920C104317684 @default.
• W2047694920 hasConceptScore W2047694920C127716648 @default.
• W2047694920 hasConceptScore W2047694920C138626823 @default.
• W2047694920 hasConceptScore W2047694920C15151550 @default.
• W2047694920 hasConceptScore W2047694920C153911025 @default.
• W2047694920 hasConceptScore W2047694920C206936463 @default.
• W2047694920 hasConceptScore W2047694920C2776229224 @default.
• W2047694920 hasConceptScore W2047694920C2777082864 @default.
• W2047694920 hasConceptScore W2047694920C2777542201 @default.
• W2047694920 hasConceptScore W2047694920C2779142324 @default.
• W2047694920 hasConceptScore W2047694920C30481170 @default.
• W2047694920 hasConceptScore W2047694920C35158069 @default.
• W2047694920 hasConceptScore W2047694920C53226629 @default.
• W2047694920 hasConceptScore W2047694920C54355233 @default.
• W2047694920 hasConceptScore W2047694920C54815482 @default.
• W2047694920 hasConceptScore W2047694920C86546924 @default.
• W2047694920 hasConceptScore W2047694920C86803240 @default.
• W2047694920 hasIssue "1" @default.
• W2047694920 hasLocation W20476949201 @default.
• W2047694920 hasLocation W20476949202 @default.

• next