6 research outputs found
Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X
Clinical presentations and molecular characterization of Indonesian children with 5 alpha-reductase deficiency
Cara Pengasuhan Anak Sebelum Ditegakkan Diagnosis Gangguan Perkembangan Sistem Reproduksi 46,XY
Latar belakang.Gangguan perkembangan sistem reproduksi 46,XY (GPSR 46,XY) bermanifestasi klinis
beranekaragam, sehingga dapat dibesarkan sebagai anak laki-laki atau perempuan.
Tujuan. Melihat sebaran cara pengasuhan individu dengan GPSR 46,XY dan dihubungkan dengan
kemungkinan diagnosisnya.
Metode.Penelitian deskriptif retrospektif dengan subyek GPSR yang dirujuk untuk analisis kromosom
pada tahun 2009-2010 dan hasil analisis kromosom 46,XY.
Hasil.Tujuh puluh pasien GPSR 46,XY dianalisis, dan ditemukan 45 dibesarkan sebagai laki-laki, 22 kasus
dibesarkan sebagai perempuan, dan 3 kasus belum ditentukan cara pengasuhan jendernya. Sebagian besar
pasien dirujuk pada usia antara >3 bulan-8 tahun, (32/70) pasien, dan 12 pasien dirujuk setelah usia 18
tahun. Alasan pasien dirujuk untuk analisis kromosom terutama adalah genitalia ambigu (44/70 kasus).
Kesimpulan.Dengan pendekatan diagnosis yang tepat pada individu GPSR 46,XY orangtua dapat diarahkan
untuk mengasuh jender yang sesuai. Untuk itu sangat diperlukan pemeriksaan klinis yang telit
Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X
Abstract Background Monosomy × or 45,X is a cytogenetic characteristic for Turner syndrome. This chromosome anomaly is encountered in around 50% of cases, but wide variations of other anomalies have been found. This report is to describe the cytogenetic characteristics of 45,X individuals. To the best of our knowledge, there were no large series of 45,X cases has been reported from Indonesia. Results Ninety five cases with 45,X cell line found, of which 60 were detected by karyotyping, 4 by FISH for sex chromosomes, and 31 by both karyotyping and FISH. Using karyotyping 37 out of 91 cases(40.6%) were identified as 45,X individuals, while cases who underwent FISH only 4 out of 35 cases (11.4%) showed 45,X result, resulting in total of 39 45,X cases (41.1%), and the rest 56 (58.9%) cases are mosaic. Among these cases, 21 out of 95 (22.1%) have Y or part of Y as the second or third sex chromosome in their additional cell lines. Result discrepancies revealed in 22 out of 31 cases who underwent both FISH and karyotyping, of which 7 showed normal 46,XX or 46,XY karyotypes, but by FISH, additional monosomy × cell line was found. Most of the cases were referred at the age of puberty (8-13 years old) or after that (14-18 years old), 31 and 21 cases respectively, and there were 14 cases were sent in adulthood. Conclusion Wide variations of sex chromosome aberrations have been detected using the combination of conventional cytogenetic and FISH, including detection of low level of mosaicism and Y-chromosome fragments. Result discrepancies using both techniques were found in 22/31 cases, and in order to obtain a more details of sex chromosome constitution of individuals with 45,X cell line both FISH and karyotyping should be carried out simultaneously.</p