Phenotypic variations in X chromosome mutations: Two case reports

• Những tác giả chính: Josette C. Dawkins (Tác giả), Olivia Carpinello (Tác giả), Micah Hill (Tác giả), Alan H. DeCherney (Tác giả)
• Định dạng: Sách
• Được phát hành: Elsevier, 2019-01-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: 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...