title: Del(1)(q23) in a patient with Hutchinson-Gilford progeria.
abstract: 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.
authors.affiliation: Unidad de Genética Médica, Facultad de Medicina de La Universidad del Zulia, Maracaibo, Venezuela. lisbor@iamnet.com
authors.forename: Wilmer
authors.initials: W
authors.lastname: Delgado Luengo
authors.forename: Augusto
authors.initials: A
authors.lastname: Rojas Martínez
authors.forename: Rocío
authors.initials: R
authors.lastname: Ortíz López
authors.forename: Caridad
authors.initials: C
authors.lastname: Martínez Basalo
authors.forename: Alicia
authors.initials: A
authors.lastname: Rojas-Atencio
authors.forename: Maribel
authors.initials: M
authors.lastname: Quintero
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Borjas
authors.forename: Alisandra
authors.initials: A
authors.lastname: Morales-Machín
authors.forename: Sandra
authors.initials: S
authors.lastname: González Ferrer
authors.forename: Lennie
authors.initials: L
authors.lastname: Pineda Bernal
authors.forename: Jenny
authors.initials: J
authors.lastname: Cañizalez-Tarazona
authors.forename: Joaquín
authors.initials: J
authors.lastname: Peña
authors.forename: Juana
authors.initials: J
authors.lastname: Delgado Luengo
authors.forename: José
authors.initials: J
authors.lastname: Chacín Hernández
authors.forename: José
authors.initials: J
authors.lastname: Chong Chang
mesh_terms: D002648:Child; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D007621:Karyotyping; D008297:Male; D011371:Progeria / Q000235:genetics* / Q000503:physiopathology; D017384:Sequence Deletion