Sindrom Turner - Tigor P. Simanjuntak (Fakultas Kedokteran Universitas Kristen Indonesia, 2010)
Abstrak Sindrom Turner adalah kelainan kongenital yang terjadi karena masalah kromosom, yaitu hilangnya sebagianatau keseluruhan kromosom X (45, XO). Etiologi pasti belum diketahui. Insidensinya berkisar antara 2,5-5,5 per10.000 kelahiran hidup bayi perempuan. Diagnosis sindrom Turner dapat ditegakkan sejak intra uterin maupunpasca lahir. Diagnosis intra uterin dapat ditegakkan dengan USG, amniosintesis dan pemeriksaan kadar alfa-fetoprotein. Diagnosis pasca lahir dengan melihat karakteristik fisik dan pemeriksaan kromosom bayi. Tulisan inimelaporkan dua kasus sindrom Turner yang terdiagnosis saat antenatal di poliklinik spesialis Obstetri danGinekologi RSU. FK. UKI Jakarta. Kata Kunci: kromosom x, USG, amniosentesis, alfa-feto protein. Abstract Turner syndrome is a congenital disorder, due to partial or total loss of X chromosome (45, XO). The definitiveetiology is unknown. The incidence is 2.5- 5.5 per 10.000 female live birth. Diagnosis could be establishedsince intrauterine period to birth. The intrauterine diagnosis could be established by applying USG,amniocentesis, and by measuring the alpha feto protein level.1-4 At birth, diagnosis could be established byphysical characteristic examination and chromosome analysis. This paper reports two cases of Turner syndromediagnosed antenatally at the Obstetric and Ginecology’s clinic , FK. UKI Hospital, Jakarta. Kay words: chromosome x, USG, amniocentesis, alpha-feto protein