Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/11382
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dc.contributor.authorFang, Y.en
dc.contributor.authorBain, S.en
dc.contributor.authorHaan, E.en
dc.contributor.authorEyre, H.en
dc.contributor.authorMacDonald, M.en
dc.contributor.authorWright, T.en
dc.contributor.authorAltherr, M.en
dc.contributor.authorRiess, O.en
dc.contributor.authorSutherland, G.en
dc.contributor.authorCallen, D.en
dc.date.issued1997en
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 1997; 71(4):453-457en
dc.identifier.issn0148-7299en
dc.identifier.issn1096-8628en
dc.identifier.urihttp://hdl.handle.net/2440/11382-
dc.description.abstractWolf-Hirschhorn syndrome (WHS) caused by 4p16.3 deletions comprises growth and mental retardation, distinct facial appearance and seizures. This study characterized a subtle interstitial deletion of 4p16.3 in a girl with mild retardation and possessing facial traits characteristic of WHS. The patient had generalized seizures in conjunction with fever at 3 and 5 years of age. Fluorescence in situ hybridization (FISH) with a series of markers in the 4p16.3 region showed that the interstitial deletion in this patient was between the probes D4S96 and D4S182, enabling the size of the deletion to be estimated as less than 1.9 Mb. This is the smallest interstitial deletion of 4p16.3 which has been reported. The patient contributes to a refinement of the phenotypic map of the WHS region in 4p16.3. The critical region for the characteristic facial changes of WHS, failure to thrive and developmental delay is now localized to a region of less than 700 kb. The mental retardation of this patient was mild suggesting that small interstitial deletion may have less severe phenotypic consequences.en
dc.language.isoenen
dc.publisherWILEY-LISSen
dc.source.urihttp://www3.interscience.wiley.com/journal/47836/abstracten
dc.subjectFace; Chromosomes, Human, Pair 4; Humans; Seizures; Mental Retardation; Chromosome Deletion; Syndrome; Growth Disorders; Genetic Markers; In Situ Hybridization, Fluorescence; Chromosome Mapping; Karyotyping; Child, Preschool; Female; Maleen
dc.titleHigh resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn Syndromeen
dc.typeJournal articleen
dc.identifier.rmid0030004354en
dc.identifier.doi10.1002/(SICI)1096-8628(19970905)71:4<453::AID-AJMG15>3.0.CO;2-Fen
dc.identifier.pubid68360-
pubs.library.collectionGenetics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]en
dc.identifier.orcidCallen, D. [0000-0002-6189-9991]en
Appears in Collections:Genetics publications
Paediatrics publications

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