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

• Hauptverfasser: Rjiba Khouloud (Verfasst von), Wafa Slimani (Verfasst von), Meriem Gaddas (Verfasst von), Ikbel Hadj hassine (Verfasst von), Afef Jelloul (Verfasst von), Hela Ben Khelifa (Verfasst von), Fethi El Amri (Verfasst von), Monia Zaouali (Verfasst von), Kenneth Mcelreavey (Verfasst von), Ali Saad (Verfasst von), Soumaya Mougou-Zerelli (Verfasst von)
• Format: Buch
• Veröffentlicht: Galenos Yayincilik, 2023-03-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: 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...