Luca Alina-Costina, Iordache C, Braha Elena
Discipine of Pediatrics, University of Medicine and Pharmacy "Grigore T. Popa"-Iasi.
Discipline of Medical Genetics, University of Medicine and Pharmacy "Grigore T. Popa"-Iasi.
Rev Med Chir Soc Med Nat Iasi. 2013 Jul-Sep;117(3):670-3.
Turner Syndrome (TS) is a chromosomal abnormality due to the complete or partial lack of chromosome X, with clinical polymorphic elements: small size, hypogonadism, various visceral abnormalities. About half of the cases may suffer from congenital heart abnormalities. We describe hereunder a case of TS diagnosed with coarctation of the aorta due to high blood pressure detected by accident.
特纳综合征(TS)是一种由于完全或部分缺失X染色体而导致的染色体异常疾病,具有临床多态性表现:身材矮小、性腺功能减退、各种内脏异常。约一半的病例可能患有先天性心脏异常。我们在此描述一例因意外检测到高血压而被诊断为主动脉缩窄的特纳综合征病例。