Phenotypic variations in X chromosome mutations: Two case reports

• Autors principals: Josette C. Dawkins (Autor), Olivia Carpinello (Autor), Micah Hill (Autor), Alan H. DeCherney (Autor)
• Format: Llibre
• Publicat: Elsevier, 2019-01-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Turner syndrome (TS) affects 1 in 2500 females. Monosomy X is the most common etiology, classically presenting with hypoestrogenemia and short stature. We present two cases of partial X chromosome deletions that do not reflect the typical phenotype of TS.Patient 1 presented at age 17 with primary am...