title: High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45,X/46,XY gonadal dysgenesis.
abstract: A higher incidence of Y-chromosome microdeletions was found on gonadal DNA than on peripheral blood lymphocyte DNA and on streak gonads than on dysgenetic testis in 11 patients with 45,X/46,XY gonadal dysgenesis. It is probable that an association between Y-chromosome microdeletions and severity of the phenotype in 45,X/46,XY patients exists.
authors.affiliation: Unidad de Genética Médica, Maracaibo, Venezuela. falvareznava@yahoo.com
authors.forename: Francisco
authors.initials: F
authors.lastname: Alvarez-Nava
authors.forename: Herminia
authors.initials: H
authors.lastname: Puerta
authors.forename: Marisol
authors.initials: M
authors.lastname: Soto
authors.forename: Lennie
authors.initials: L
authors.lastname: Pineda
authors.forename: Angel
authors.initials: A
authors.lastname: Temponi
mesh_terms: D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D004247:DNA / Q000032:analysis; D005260:Female; D005787:Gene Frequency; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics* / Q000378:metabolism; D006066:Gonads / Q000378:metabolism*; D006801:Humans; D008297:Male; D009030:Mosaicism
chemical_list: D004247:DNA