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Type: Journal article
Title: High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn Syndrome
Author: Fang, Y.
Bain, S.
Haan, E.
Eyre, H.
MacDonald, M.
Wright, T.
Altherr, M.
Riess, O.
Sutherland, G.
Callen, D.
Citation: American Journal of Medical Genetics Part A, 1997; 71(4):453-457
Publisher: WILEY-LISS
Issue Date: 1997
ISSN: 0148-7299
Abstract: Wolf-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.
Keywords: Face
Chromosomes, Human, Pair 4
Chromosome Deletion
Growth Disorders
Genetic Markers
In Situ Hybridization, Fluorescence
Chromosome Mapping
Child, Preschool
Intellectual Disability
DOI: 10.1002/(SICI)1096-8628(19970905)71:4<453::AID-AJMG15>3.0.CO;2-F
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Appears in Collections:Aurora harvest 7
Genetics publications
Paediatrics publications

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