Sindrom Turner

Abstract

Abstrak

Sindrom Turner adalah kelainan kongenital yang terjadi karena masalah kromosom, yaitu hilangnya sebagian
atau keseluruhan kromosom X (45, XO). Etiologi pasti belum diketahui. Insidensinya berkisar antara 2,5-5,5 per
10.000 kelahiran hidup bayi perempuan. Diagnosis sindrom Turner dapat ditegakkan sejak intra uterin maupun
pasca lahir. Diagnosis intra uterin dapat ditegakkan dengan USG, amniosintesis dan pemeriksaan kadar alfa-feto
protein. Diagnosis pasca lahir dengan melihat karakteristik fisik dan pemeriksaan kromosom bayi. Tulisan ini
melaporkan dua kasus sindrom Turner yang terdiagnosis saat antenatal di poliklinik spesialis Obstetri dan
Ginekologi 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 definitive
etiology is unknown. The incidence is 2.5- 5.5 per 10.000 female live birth. Diagnosis could be established
since 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 by
physical characteristic examination and chromosome analysis. This paper reports two cases of Turner syndrome
diagnosed antenatally at the Obstetric and Ginecology’s clinic , FK. UKI Hospital, Jakarta.

Kay words: chromosome x, USG, amniocentesis, alpha-feto protein