Article
45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study.
Sao Paulo medical journal = Revista paulista de medicina - 1 Dec 2014
Rosa Rafael Fabiano Machado, D'Ecclesiis Willy Francisco Bartel, Dibbi Raquel Papandreus, Rosa Rosana Cardoso Manique, Trevisan Patrícia, Graziadio Carla, Paskulin Giorgio Adriano, Zen Paulo Ricardo Gazzola
Abstract excerpt
CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism. DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil. METHODS: Our sample consisted of patients diagnosed at the clinical genetics...
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