Publications by authors named "José Chacín Hernández"

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Del(1)(q23) in a patient with Hutchinson-Gilford progeria.

Am J Med Genet 2002 Dec;113(3):298-301

Unidad de Genética Médica, Facultad de Medicina de La Universidad del Zulia, Maracaibo, Venezuela.

A 9-year-old patient with the classical clinical picture of Hutchinson-Gilford progeria (HGP) is described. The karyotype shows a 46,XY,del(1)(q23) constitution. Our findings suggest that the interval 1q23 may play a roll in the etiology of HGP. A perturbation in glycosylation in connective tissue has been demonstrated in patients with this condition. This abnormality may be due to a defect in the UDP-galactose:beta-N-acetylglucosamina-beta-1,4-galactosyltransferase 3 (B4GALT3) gene that has been mapped in the interval 1q21-23. The cytogenetical analyses of this patient suggest that the B4GALT3 gene could be involved in the pathogenesis of HGP.
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December 2002