FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1979337030> ?p ?o ?g. }

• W1979337030 endingPage "1179" @default.
• W1979337030 startingPage "1173" @default.
• W1979337030 abstract "We report on a 6-year-old boy referred for cytogenetics study. A few non-specific features were observed in the newborn: hypotonia, failure to thrive, seizures, pre-auricular skin tags. Cat-like cry was not identified. No remarkable facial dysmorphism, gastrointestinal, respiratory or cardiac abnormalities were identified. At age 4 years, speech and motor skill delays were apparent. Karyotyping and FISH analysis revealed a de novo rearranged chromosome 5p, with subtelomeric deletion of 5p and a duplication of the cri-du-chat critical region. Array CGH using sub-megabase resolution tiling-set (SMRT) array followed by FISH analysis with labeled BACs showed a deletion of 5pter to 5p15.31 (0–6.9 Mb) and an inverted duplication of the greater part of 5p15.31 to the distal end of 5p14.3 (6.9–19.9 Mb). Although very rare, inverted duplications with terminal deletion (inv dup del) have been reported at different chromosomal ends. Our finding adds a second patient of inv dup del 5p to this growing list, and the potential causative mechanisms for this rearrangement are discussed. Review of the mapping information of cri-du-chat patients and the comparison with a previously reported patient suggested that the critical region for cat-like cry is located within a 0.6 Mb region. © 2008 Wiley-Liss, Inc." @default.
• W1979337030 created "2016-06-24" @default.
• W1979337030 creator A5000944415 @default.
• W1979337030 creator A5005914350 @default.
• W1979337030 creator A5013908616 @default.
• W1979337030 creator A5014040230 @default.
• W1979337030 creator A5016348509 @default.
• W1979337030 creator A5022167873 @default.
• W1979337030 creator A5057585124 @default.
• W1979337030 creator A5074525134 @default.
• W1979337030 date "2008-01-01" @default.
• W1979337030 modified "2023-10-16" @default.
• W1979337030 title "Inverted duplication with terminal deletion of 5p and no cat-like cry" @default.
• W1979337030 cites W1964618377 @default.
• W1979337030 cites W1971708948 @default.
• W1979337030 cites W1978285855 @default.
• W1979337030 cites W1991836385 @default.
• W1979337030 cites W1995302236 @default.
• W1979337030 cites W1997114517 @default.
• W1979337030 cites W2017024942 @default.
• W1979337030 cites W2021484726 @default.
• W1979337030 cites W2025881188 @default.
• W1979337030 cites W2026458274 @default.
• W1979337030 cites W2027923459 @default.
• W1979337030 cites W2028616975 @default.
• W1979337030 cites W2032683746 @default.
• W1979337030 cites W2038763916 @default.
• W1979337030 cites W2038797322 @default.
• W1979337030 cites W2041792102 @default.
• W1979337030 cites W2042752665 @default.
• W1979337030 cites W2043749023 @default.
• W1979337030 cites W2046173440 @default.
• W1979337030 cites W2056417719 @default.
• W1979337030 cites W2068977255 @default.
• W1979337030 cites W2072544023 @default.
• W1979337030 cites W2075449581 @default.
• W1979337030 cites W2076982574 @default.
• W1979337030 cites W2080103577 @default.
• W1979337030 cites W2105693920 @default.
• W1979337030 cites W2112580847 @default.
• W1979337030 cites W2112670843 @default.
• W1979337030 cites W2116640435 @default.
• W1979337030 cites W2119886845 @default.
• W1979337030 cites W2123497822 @default.
• W1979337030 cites W2128016314 @default.
• W1979337030 cites W2137161924 @default.
• W1979337030 cites W2146011704 @default.
• W1979337030 cites W2154319948 @default.
• W1979337030 cites W2155707112 @default.
• W1979337030 cites W2156970201 @default.
• W1979337030 cites W2159080594 @default.
• W1979337030 cites W2160868309 @default.
• W1979337030 cites W2330964954 @default.
• W1979337030 doi "https://doi.org/10.1002/ajmg.a.32246" @default.
• W1979337030 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18266247" @default.
• W1979337030 hasPublicationYear "2008" @default.
• W1979337030 type Work @default.
• W1979337030 sameAs 1979337030 @default.
• W1979337030 citedByCount "18" @default.
• W1979337030 countsByYear W19793370302012 @default.
• W1979337030 countsByYear W19793370302014 @default.
• W1979337030 countsByYear W19793370302016 @default.
• W1979337030 countsByYear W19793370302017 @default.
• W1979337030 countsByYear W19793370302018 @default.
• W1979337030 countsByYear W19793370302019 @default.
• W1979337030 countsByYear W19793370302020 @default.
• W1979337030 countsByYear W19793370302023 @default.
• W1979337030 crossrefType "journal-article" @default.
• W1979337030 hasAuthorship W1979337030A5000944415 @default.
• W1979337030 hasAuthorship W1979337030A5005914350 @default.
• W1979337030 hasAuthorship W1979337030A5013908616 @default.
• W1979337030 hasAuthorship W1979337030A5014040230 @default.
• W1979337030 hasAuthorship W1979337030A5016348509 @default.
• W1979337030 hasAuthorship W1979337030A5022167873 @default.
• W1979337030 hasAuthorship W1979337030A5057585124 @default.
• W1979337030 hasAuthorship W1979337030A5074525134 @default.
• W1979337030 hasConcept C104317684 @default.
• W1979337030 hasConcept C206936463 @default.
• W1979337030 hasConcept C23069440 @default.
• W1979337030 hasConcept C2779546488 @default.
• W1979337030 hasConcept C30481170 @default.
• W1979337030 hasConcept C48737797 @default.
• W1979337030 hasConcept C53226629 @default.
• W1979337030 hasConcept C54355233 @default.
• W1979337030 hasConcept C7602840 @default.
• W1979337030 hasConcept C86803240 @default.
• W1979337030 hasConceptScore W1979337030C104317684 @default.
• W1979337030 hasConceptScore W1979337030C206936463 @default.
• W1979337030 hasConceptScore W1979337030C23069440 @default.
• W1979337030 hasConceptScore W1979337030C2779546488 @default.
• W1979337030 hasConceptScore W1979337030C30481170 @default.
• W1979337030 hasConceptScore W1979337030C48737797 @default.
• W1979337030 hasConceptScore W1979337030C53226629 @default.
• W1979337030 hasConceptScore W1979337030C54355233 @default.
• W1979337030 hasConceptScore W1979337030C7602840 @default.
• W1979337030 hasConceptScore W1979337030C86803240 @default.
• W1979337030 hasIssue "9" @default.
• W1979337030 hasLocation W19793370301 @default.

• next