A New Candidate Locus For Bilateral Perisylvian Polymicrogyria Mapped On Chromosome Xq27.

dc.creatorSantos, Neide F
dc.creatorSecolin, Rodrigo
dc.creatorBrandão-Almeida, Iara L
dc.creatorSilva, Marilza S
dc.creatorTorres, Fábio R
dc.creatorTsuneda, Simone S
dc.creatorGuimarães, Catarina A
dc.creatorHage, Simone R V
dc.creatorCendes, Fernando
dc.creatorGuerreiro, Marilisa M
dc.creatorLopes-Cendes, Iscia
dc.date2008-May
dc.date2015-11-27T13:12:39Z
dc.date2015-11-27T13:12:39Z
dc.date.accessioned2018-03-29T01:06:33Z
dc.date.available2018-03-29T01:06:33Z
dc.identifierAmerican Journal Of Medical Genetics. Part A. v. 146A, n. 9, p. 1151-7, 2008-May.
dc.identifier1552-4833
dc.identifier10.1002/ajmg.a.32270
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/18384144
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/197734
dc.identifier18384144
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1297967
dc.descriptionPolymicrogyria (PMG) is characterized by an excessive number of small and prominent brain gyri, separated by shallow sulci. Bilateral perisylvian polymicrogyria (BPP) is the most common form of PMG. Clinical signs include pseudobulbar paresis, mental retardation, and epilepsy. Familial forms of BPP have been described and a candidate locus was previously mapped to chromosome Xq28, distal do marker DXS8103. The objective of this study was to perform linkage analysis in one family segregating BPP. A total of 15 individuals, including 8 affected patients with BPP were evaluated. Family members were examined by a neurologist and subjected to magnetic resonance imaging scans. Individuals were genotyped for 18 microsatellite markers, flanking a 42.3 cM interval on ch Xq27-q28. Two-point and multipoint linkage analysis was performed using the LINKAGE package and haplotype reconstruction was performed by GENEHUNTER software. Our results showed a wide spectrum of clinical manifestations in affected individuals with BPP, ranging from normal to mild neurological abnormalities. Two-point linkage analysis yield a Zmax = 2.06 at theta = 0.00 for markers DXS1205 and DXS1227. Multipoint lod-scores indicate a candidate interval of 13 cM between markers DSXS1205 and DXS8043, on ch Xq27.2-Xq27.3. These results point to a new locus for BPP in a more centromeric location than previously reported.
dc.description146A
dc.description1151-7
dc.languageeng
dc.relationAmerican Journal Of Medical Genetics. Part A
dc.relationAm. J. Med. Genet. A
dc.rightsfechado
dc.rights(c) 2008 Wiley-Liss, Inc.
dc.sourcePubMed
dc.subjectAdult
dc.subjectCerebral Cortex
dc.subjectChild
dc.subjectChromosome Mapping
dc.subjectChromosomes, Human, X
dc.subjectFemale
dc.subjectGenotype
dc.subjectHaplotypes
dc.subjectHumans
dc.subjectLod Score
dc.subjectMagnetic Resonance Imaging
dc.subjectMale
dc.subjectMalformations Of Cortical Development
dc.subjectMicrosatellite Repeats
dc.subjectPedigree
dc.titleA New Candidate Locus For Bilateral Perisylvian Polymicrogyria Mapped On Chromosome Xq27.
dc.typeArtículos de revistas


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