Retief A E
S Afr Med J. 1985 Oct 26;68(9):648-51.
Clinical indications for chromosome analysis in patients with gynaecological problems are well defined. These include, with primary or secondary amenorrhoea, infertility and repeated miscarriages in adults or retarded puberty and abnormal sexual development in young girls. The type of chromosome abnormality, the incidence, and the management of patients are discussed with reference to 15 years' experience in the Department of Cytogenetics at Tygerberg Hospital. The cytogenetics of 419 patients with amenorrhoea are discussed under headings such as gonadal dysgenesis, monosomy X, chromosome mosaics and the XY female phenotype. Results of chromosome studies in 540 males with a low sperm count are given. The importance of chromosome studies in repeated miscarriages and genetic counselling for carriers of balanced translocations is stressed.
妇科问题患者进行染色体分析的临床指征已明确界定。这些指征包括成人的原发性或继发性闭经、不孕和反复流产，或年轻女孩的青春期发育迟缓及性发育异常。结合泰格伯格医院细胞遗传学部门15年的经验，讨论了染色体异常的类型、发生率及患者的处理方法。419例闭经患者的细胞遗传学情况在诸如性腺发育不全、X单体、染色体嵌合体及XY女性表型等标题下进行了讨论。给出了540例精子计数低的男性的染色体研究结果。强调了染色体研究在反复流产中的重要性以及对平衡易位携带者的遗传咨询。
