Artículo
Trisomy of the short stature homeobox-containing gene (SHOX) due to duplication/deletion of the X chomosome: Clinical implications on the stature
del Rey, Graciela Monica
; Jasper, Hector Guillermo
; Bengolea, Sonia Viviana; Boywitt, Adriana Patricia; de Bellis, Rodolfo Daniel; Heinrich, Juan Jorge
Fecha de publicación:
10/2010
Editorial:
Karger
Revista:
Hormone Research in Paediatrics
ISSN:
0301-0163
e-ISSN:
1663-2826
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
Background: The karyotypes of 2 patients with abnormal stature and different phenotypes revealed one similar structural abnormality in the X chromosome by conventional cytogenetic studies and fluorescence in situ hybridization analysis (FISH). FISH strongly suggested the presence of two copies of the SHOX gene in the der(X) chromosome. Patients and Results: Patient 1 is a teenager girl with tall stature, behavioral disturbances and normal pubertal development. The abnormal X chromosome was present in all cells studied. Parent's karyotypes were normal. Patient 2 is a girl with gonadal dysgenesis, mild Turner syndrome phenotype and short stature. The karyotype was a mosaic 45,X/46,X,r(X) and der(X) chromosome presented in most metaphases of the cell lines. Parent's karyotypes were normal. Nearly all duplication of Xp and partial deletion of the long arm (Xq) from Xq27 or Xq21 to Xqter, in cases 1 and 2, respectively, were observed. In both patients, duplication of Xp translocated to deleted Xq occurred leading to a triplication of the pseudoautosomal region 1 (PAR1) where the SHOX gene is located (Xp22.3). Conclusions: We propose that in some cases of trisomy for the SHOX gene, the effect of overdosage per se may affect the stature, even in patients with preserved ovarian function (case 1), and that estrogen deprivation may not always be a contributor for tall stature (case 2).
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Articulos(CEDIE)
Articulos de CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Articulos de CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Citación
del Rey, Graciela Monica; Jasper, Hector Guillermo; Bengolea, Sonia Viviana; Boywitt, Adriana Patricia; de Bellis, Rodolfo Daniel; et al.; Trisomy of the short stature homeobox-containing gene (SHOX) due to duplication/deletion of the X chomosome: Clinical implications on the stature; Karger; Hormone Research in Paediatrics; 74; 4; 10-2010; 297-304
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