Phenotypic variations in X chromosome mutations: Two case reports

• मुख्य लेखकों: Josette C. Dawkins (लेखक), Olivia Carpinello (लेखक), Micah Hill (लेखक), Alan H. DeCherney (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Elsevier, 2019-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...