| Revista: | Genetics and molecular biology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000337176 |
| ISSN: | 1415-4757 |
| Autors: | Lima, Renata de1 Iamada, Cristina Forti2 Silva, Luciana Oliveira2 Mello, Maricilda Palandi de1 Maciel-Guerra, Andrea Trevas2 |
| Institucions: | 1Universidade Estadual de Campinas, Centro de Biologia Molecular e Engenharia Genetica, Campinas, Sao Paulo. Brasil 2Universidade Estadual de Campinas, Faculdade de Ciencias Medicas, Campinas, Sao Paulo. Brasil |
| Any: | 2008 |
| Període: | Dic |
| Volum: | 31 |
| Número: | 4 |
| Paginació: | 839-842 |
| País: | Brasil |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Analítico, descriptivo |
| Resumen en inglés | 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 markers SHOX-CA repeat, DXYS10092, DXYS10093 and DXYS10091 localized around theSHOX 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 |
| Disciplines | Medicina |
| Paraules clau: | Anatomía humana, Genética, Discondrosteosis de Léri-Weill, Deformidad de Madelung, Herencia dominante pseudoautosomal, Estatura, Gen SHOX |
| Keyword: | Medicine, Human anatomy, Genetics, Léri-Weill dyschondrosteosis, Madelung deformity, Pseudoautosomal dominant inheritance, Short stature, SHOX gene |
| Text complet: | Texto completo (Ver PDF) |
