An illustrative case of Leri-Weill dyschondrosteosis

dc.creatorde Lima, R
dc.creatorIamada, CF
dc.creatorSilva, LO
dc.creatorde Mello, MP
dc.creatorMaciel-Guerra, AT
dc.date2008
dc.date2014-11-18T19:51:23Z
dc.date2015-11-26T17:53:40Z
dc.date2014-11-18T19:51:23Z
dc.date2015-11-26T17:53:40Z
dc.date.accessioned2018-03-29T00:37:15Z
dc.date.available2018-03-29T00:37:15Z
dc.identifierGenetics And Molecular Biology. Soc Brasil Genetica, v. 31, n. 4, n. 839, n. 842, 2008.
dc.identifier1415-4757
dc.identifierWOS:000261856700007
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/54412
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/54412
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/54412
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1290588
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionWe report on a girl presenting Leri-Weill dyschondrosteosis (LWD) due to deletion of the SHOX gene. Her family included individuals with short stature alone or with both short stature and mesomelia or Madelung's deformity. The deletion was demonstrated through detection of hemizygosity for microsatellite markers SHOX-CA repeat, DXYS10092, DXYS10093 and DXYS10091 localized around the SHOX gene, with retention of paternal alleles in the proband and three of her sisters who had short stature as the only clinical feature. Hemizygosity for these loci was also observed in their mother, who had short stature too. The deletion in the proband was however larger, including locus DXY10083. The proband's only sister with normal height did not carry the deletion. Family history suggests transmission of the deletion from the proband's maternal great-grandfather to her grandfather via the Y chromosome, and from the grandfather to the proband's mother via the X chromosome after crossing-over in the pseudoautosomal region proximal to the SHOX gene.
dc.description31
dc.description4
dc.description839
dc.description842
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionFAPESP [01/06989-7]
dc.languageen
dc.publisherSoc Brasil Genetica
dc.publisherRibeirao Pret
dc.publisherBrasil
dc.relationGenetics And Molecular Biology
dc.relationGenet. Mol. Biol.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjectLeri-Weill dyschondrosteosis
dc.subjectMadelung's deformity
dc.subjectpseudoautosomal dominant inheritance
dc.subjectshort stature
dc.subjectSHOX gene
dc.subjectIdiopathic Short Stature
dc.subjectHomeobox Gene Shox
dc.subjectTurner-syndrome
dc.subjectGrowth Failure
dc.subjectDeletions
dc.subjectRecombination
dc.subjectHeterogeneity
dc.subjectDownstream
dc.subjectMutations
dc.subjectChildren
dc.titleAn illustrative case of Leri-Weill dyschondrosteosis
dc.typeArtículos de revistas


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