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目的对遗传咨询者或产前诊断者的染色体结果进行分析,探讨标记染色体的临床意义。方法 2009年1月1日至2015年10月31日,对来我院遗传门诊就诊的66 180例患者做染色体检查。结果 66 180例患者中共发现54例47,XN,+mar,其中外周血24例,脐血11例,羊水14例,绒毛5例。54例主要临床指征为不良孕产史、超声检测异常、唐氏筛查高危等。结论对于不良孕产史、超声检测异常、唐氏筛查高危等,应尽早行染色体检查,避免异常染色体胎儿的出生。对于有标记染色体的核型,应当提供恰当的遗传咨询。
Objective To analyze the chromosomal results of genetic counselors or prenatal diagnosticians to explore the clinical significance of labeled chromosomes. Methods From January 1, 2009 to October 31, 2015, 66 180 patients who came to our hospital for outpatient clinic were examined by chromosome. Results 66 180 patients were found in 54 cases of 47, XN, + mar, including 24 cases of peripheral blood, cord blood in 11 cases, 14 cases of amniotic fluid, villi in 5 cases. 54 cases of major clinical indications for the history of adverse pregnancy, ultrasound abnormalities, Down’s screening of high risk. Conclusion For the history of adverse pregnancy, ultrasound abnormalities, Down’s screening of high risk, chromosomal examination should be done as soon as possible to avoid the birth of abnormal chromosome fetuses. For karyotypes with labeled chromosomes, appropriate genetic counseling should be provided.