原发性闭经中的特定染色体畸变：对印度人群3776例病例的研究。
Specific Chromosomal Aberrations in Primary Amenorrhoea: Study on 3776 Cases from Indian Population.
作者信息
Koppaka Neeraja T, Virulkar Shital K, Chavan Deepak S, Dalvi Rupa C, Gupta Neelam, Mandava Swarna
机构信息
Cytogenetics Division, SRL Diagnostics, Plot No: 1, Prime Square Building, S.V. Road, Goregaon [West], Mumbai, 400062 India.
Genetics Unit, Kokilaben Hospital, Mumbai, India.
出版信息
J Obstet Gynaecol India. 2019 Oct;69(5):457-461. doi: 10.1007/s13224-019-01209-3. Epub 2019 Mar 14.
OBJECTIVE
To verify the prevalence of chromosomal abnormalities in women with primary amenorrhoea in India aiming at appropriate genetic counselling.
METHODS
In a 16-year retrospective (2001-2016) study, 3776 women with primary amenorrhoea were evaluated. Chromosomal analysis of all the cases was done by GTG banding. Clinical history and other laboratory findings were taken into consideration to determine the diagnosis.
RESULTS
The karyotype results revealed 31.2% cases with chromosomal abnormalities ( = 1177/3776). In patients with abnormal chromosome complement, 31.2% exhibited numerical aberrations ( = 367) and 34.9% with structural aberrations ( = 411). About 33.9% of cases were with XY male karyotype ( = 399).
CONCLUSION
As per the literature till date, this study is the largest with high incidence of chromosomal abnormalities; early detection of abnormalities is necessary for guidance to reproductive management and genetic counselling.
目的
为了进行适当的遗传咨询，核实印度原发性闭经女性中染色体异常的患病率。
方法
在一项为期16年（2001 - 2016年）的回顾性研究中，对3776名原发性闭经女性进行了评估。所有病例均通过GTG显带进行染色体分析。综合临床病史和其他实验室检查结果以确定诊断。
结果
核型分析结果显示，31.2%的病例存在染色体异常（n = 1177/3776）。在染色体组成异常的患者中，31.2%表现为数目畸变（n = 367），34.9%表现为结构畸变（n = 411）。约33.9%的病例为XY男性核型（n = 399）。
结论
就目前的文献而言，本研究是规模最大的，且染色体异常发生率高；早期发现异常对于生殖管理指导和遗传咨询很有必要。
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