Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/6929
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dc.contributor.authorTurner, G.en
dc.contributor.authorGedeon, A.en
dc.contributor.authorKerr, B.en
dc.contributor.authorBennett, R.en
dc.contributor.authorMulley, J.en
dc.contributor.authorPartington, M.en
dc.date.issued2003en
dc.identifier.citationAmerican Journal of Medical Genetics. Part A, 2003; 117A(3):245-250en
dc.identifier.issn1552-4825en
dc.identifier.issn1552-4833en
dc.identifier.urihttp://hdl.handle.net/2440/6929-
dc.description.abstractAn X-linked recessive syndromic form of mental retardation is described in a family in which 10 males in four generations were affected. The main manifestations were severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, and difficult, aggressive behavior. There was a moderate reduction both in occipitofrontal circumference (OFC) and height and a similar facial appearance, triangular in shape with a high forehead, prominent ears, and a small pointed chin. Linkage analysis located the gene at Xp22 with maximum lod scores of 4.8 at theta = 0.0 for markers mapping between the closest recombination points at DXS7104 and DXS418. The physical length of this region is approximately 6 Mb. Mutations in the GRPR gene and M6b genes were excluded by sequence analysis. Nearby genes in which mutations are known to be associated with mental retardation (RPS6KA3, STK9, and VCXA, B and C), were excluded by position.en
dc.description.statementofresponsibilityTurner, Gillian ; Gedeon, Agi ; Kerr, Bronwyn ; Bennett, Rachael ; Mulley, John ; Partington, Michaelen
dc.language.isoenen
dc.publisherWiley-Lissen
dc.rights© 2003 Wiley-Liss, Inc.en
dc.subjectsyndromic X linked mental retardation; MRXS; child- hood hypotonia; episodic violence; X linkage; Xp22 mappingen
dc.titleSyndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22en
dc.typeJournal articleen
dc.identifier.rmid0020030239en
dc.identifier.doi10.1002/ajmg.a.10005en
dc.identifier.pubid58967-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
Appears in Collections:Paediatrics publications

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