Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/106913
Type: Artigo de periódico
Title: An Illustrative Case Of Léri-weill Dyschondrosteosis
Author: de Lima R.
Iamada C.F.
Silva L.O.
de Mello M.P.
Maciel-Guerra A.T.
Abstract: We report on a girl presenting Léri-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 markdrs 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 DXY 10083. 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. Copyright © 2008, Sociedade Brasileira de Genética.
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Rights: aberto
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Address: http://www.scopus.com/inward/record.url?eid=2-s2.0-62549136505&partnerID=40&md5=af18ee36c8faa0666e4a62001dddd8a6
Date Issue: 2008
Appears in Collections:Unicamp - Artigos e Outros Documentos

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