Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis

• Váldodahkkit: Rjiba Khouloud (Dahkki), Wafa Slimani (Dahkki), Meriem Gaddas (Dahkki), Ikbel Hadj hassine (Dahkki), Afef Jelloul (Dahkki), Hela Ben Khelifa (Dahkki), Fethi El Amri (Dahkki), Monia Zaouali (Dahkki), Kenneth Mcelreavey (Dahkki), Ali Saad (Dahkki), Soumaya Mougou-Zerelli (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Galenos Yayincilik, 2023-03-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

INTRODUCTION: Disorders of sexual development (DSD) are a heterogeneous group of genital defects affecting chromosomal, gonadal and anatomical sex. 46,XY DSD is a subset of DSD which covers a wide range of phenotypes in which 46,XY gonadal dysgenesis (GD) is the most severe form. In this study, we r...