Matches in SemOpenAlex for { <https://semopenalex.org/work/W344913892> ?p ?o ?g. }
Showing items 1 to 70 of
70
with 100 items per page.
- W344913892 abstract "Wolf-Hirschhorn Syndrome, WHS, (4p-) is a clinically recognized entity where the deletion ranges from one half of the short arm of 4p to being subtle and cytogenetically undetectable. Because such variations do not result in significant differences in the WMS phenotype it has been suggested that them is a critical region involved in the distal portion of chromosome 4, within 4p16.3. This has been recently localized to a 2.5 Mb segment 100-300 kb from the telomere. A cosmid probe, pC847.351, that maps to distal 4p16.3 (locus D4F26) is commercially available for diagnostic use. We present a child with classical feature of Wolf-Hirschhorn Syndrome whose chromosome analyses, including high resolution banding, looking specifically at the 4p region, were normal, and in whom FISH using the commercially available cosmid probe for the 4p16.3 region did not demonstrate a deletion. Insistence on the clinician`s part that the child`s features were classic for WHS prompted further investigation. Four additional cosmid clones distal to the HD gene were tested by FISH on metaphase chromosomes from the proband. Cosmids representing the loci D4S95 and D4S43, which are {approximately}3.5 and 2.5 Mb, Respectively, proximal to D4F26 were present. However, cosmids for the loci D4S98 and FGFR3, whichmore » are within 100 kb of each other and {approximately}300 kb distal to D4S43 were deleted. This deletion is the smallest reported to date in a patient with typical WHS. Previous studies of patients both lacking the WHS phenotype and deleted using cosmid probe pC847.351 have suggested that the most distal region (150 kb) of 4p16.3 is not part of the WHS critical region. This is confirmed by our study. Estabrooks` report, together with our case, suggests redefinition of the WHS critical region proximal to D4F26 and distal to D4S43. We caution against ruling out WHS with the above probe since there may be other cases where the most distal region is intact.« less" @default.
- W344913892 created "2016-06-24" @default.
- W344913892 creator A5025013740 @default.
- W344913892 creator A5042183876 @default.
- W344913892 creator A5082009256 @default.
- W344913892 date "1994-09-01" @default.
- W344913892 modified "2023-09-26" @default.
- W344913892 title "Classical Wolf-Hirschhorn Syndrome confirmed molecularly despite normal results using commercially available probes: Redefinition of critical region" @default.
- W344913892 hasPublicationYear "1994" @default.
- W344913892 type Work @default.
- W344913892 sameAs 344913892 @default.
- W344913892 citedByCount "0" @default.
- W344913892 crossrefType "journal-article" @default.
- W344913892 hasAuthorship W344913892A5025013740 @default.
- W344913892 hasAuthorship W344913892A5042183876 @default.
- W344913892 hasAuthorship W344913892A5082009256 @default.
- W344913892 hasConcept C104317684 @default.
- W344913892 hasConcept C122735190 @default.
- W344913892 hasConcept C127716648 @default.
- W344913892 hasConcept C134068817 @default.
- W344913892 hasConcept C153911025 @default.
- W344913892 hasConcept C188997412 @default.
- W344913892 hasConcept C30481170 @default.
- W344913892 hasConcept C35101798 @default.
- W344913892 hasConcept C501734568 @default.
- W344913892 hasConcept C53226629 @default.
- W344913892 hasConcept C54355233 @default.
- W344913892 hasConcept C84597430 @default.
- W344913892 hasConcept C86803240 @default.
- W344913892 hasConceptScore W344913892C104317684 @default.
- W344913892 hasConceptScore W344913892C122735190 @default.
- W344913892 hasConceptScore W344913892C127716648 @default.
- W344913892 hasConceptScore W344913892C134068817 @default.
- W344913892 hasConceptScore W344913892C153911025 @default.
- W344913892 hasConceptScore W344913892C188997412 @default.
- W344913892 hasConceptScore W344913892C30481170 @default.
- W344913892 hasConceptScore W344913892C35101798 @default.
- W344913892 hasConceptScore W344913892C501734568 @default.
- W344913892 hasConceptScore W344913892C53226629 @default.
- W344913892 hasConceptScore W344913892C54355233 @default.
- W344913892 hasConceptScore W344913892C84597430 @default.
- W344913892 hasConceptScore W344913892C86803240 @default.
- W344913892 hasLocation W3449138921 @default.
- W344913892 hasOpenAccess W344913892 @default.
- W344913892 hasPrimaryLocation W3449138921 @default.
- W344913892 hasRelatedWork W129379213 @default.
- W344913892 hasRelatedWork W1486020487 @default.
- W344913892 hasRelatedWork W1968425684 @default.
- W344913892 hasRelatedWork W1984672882 @default.
- W344913892 hasRelatedWork W199240426 @default.
- W344913892 hasRelatedWork W1999547418 @default.
- W344913892 hasRelatedWork W2007929650 @default.
- W344913892 hasRelatedWork W2045568306 @default.
- W344913892 hasRelatedWork W2056435351 @default.
- W344913892 hasRelatedWork W2069896544 @default.
- W344913892 hasRelatedWork W2071059965 @default.
- W344913892 hasRelatedWork W2080096443 @default.
- W344913892 hasRelatedWork W2101257178 @default.
- W344913892 hasRelatedWork W2152634416 @default.
- W344913892 hasRelatedWork W2157298703 @default.
- W344913892 hasRelatedWork W2169470584 @default.
- W344913892 hasRelatedWork W2169650879 @default.
- W344913892 hasRelatedWork W2223769884 @default.
- W344913892 hasRelatedWork W2329891111 @default.
- W344913892 hasRelatedWork W314069871 @default.
- W344913892 hasVolume "55" @default.
- W344913892 isParatext "false" @default.
- W344913892 isRetracted "false" @default.
- W344913892 magId "344913892" @default.
- W344913892 workType "article" @default.