摘要
目的分析福建地区原发性闭经患者的细胞遗传学特征,探讨性染色体异常对性腺发育和临床表现的影响。方法对128例原发性闭经患者进行外周血淋巴细胞染色体培养并进行分析。结果 128例原发性闭经患者中检出染色体正常核型86例,占67.19%,异常核型42例,占32.81%,其中包括性染色体数目异常16例、结构异常4例、嵌合体7例以及性反转15例。结论性染色体异常是闭经的主要原因之一;原发性闭经患者的染色体检查对明确病因并进行治疗具有重要意义。
Objectives： To analyze the cytogenetic features of the patients with primary amenorrhea, to discuss influence of the sex chromosomes abnormalities on gonad development and clinic features.Methods： To cuture peripheral blood lymphocy of 128 patients with primary amenorrhea for cytogenetic analysis.Results： Normal karyotype of chromosome 86cases, accounting for 67.19%： abnormal karyotypes in 42cases, accounting for 32.81%, includingl6patients with X - chromosome aneuploidies, 4 patients with structural abnormalities, 7 patients with chimeras and 15 patients with Karyotypes were 46, XY. Conclusion： Sex chromosome abnormalities is one of the main factors of primary amenorrhea, The examination of chromosome is necessary for therapy and dete rm ination of primary amenorrhea pathogeny.
出处
《中国优生与遗传杂志》
2014年第12期46-47,共2页
Chinese Journal of Birth Health & Heredity
