637例遗传咨询患者的染色体核型分析

Analysis of chromosomal karyotype in 637 cases of genetic counseling

目的分析海南省637例遗传咨询患者的染色体核型。方法对637例遗传咨询患者进行外周血淋巴细胞培养常规制备染色体进行核型分析,根据就诊原因进行分类,并分析染色体结构和数目异常。结果遗传咨询常见病因为习惯性流产、少精子、弱精子和无精子症、畸胎及死胎史、先天畸形、先天愚型、不孕症、原发或继发闭经史、性征异常等,前三者最为常见。637例中检测出41(6.44%)例染色体异常患者,先天愚型的染色体异常检出率高达75.00%。21-或18-三体综合征是染色体异常的主要方式(39.02%),染色体相互易位和9号染色体臂间倒位是染色体结构异常主要原因。结论在637例遗传咨询患者中,以先天愚型与原发及继发闭经患者中染色体异常的检出率为高。

[Objective] To analyze the chromosomal karyotype in 637 patients of genetic counseling and to provide the information for prenatal diagnosis. [Methods] 637 cases of genetic counseling were prepared with routine inoculation and incubation methods, and the karyotype analysis of the peripheral blood lymphocytes was carried out with G-banding. [Results] These common causes of infertility in genetic counseling patients were habitual abortion, oligozoospermia, azoospermia, abnormal embryo, fetal death, congenital deformity, Down′s syndrome, infertility, primarily or secondary amenorrhea, abnomal sexual characteristics, respectively. The overall incidence of chromosomal abnormality was 6.64%(41/637). Among these karyotype, sexual chromosome mutation was found in 6 cases and somatic chromosome mutation in 35 cases. In 102 habitual abortion cases, chromosome abnormal rate was 7.84%. In 112 oligozoospermia or azoospermia cases, chromosome abnormal rate was 7.14%. In 12 Down′s syndrome cases, chromosome abnormal rate was 75.00%. In 9 primarily or secondary amenorrhea cases, chromosome abnormal rate was 33.30%. In 22 congenital deformity cases, chromosome abnormal rate was 9.09%. In 228 other cases, chromosome abnormal rate was 1.75%. Down′s syndrome and Turner syndrome were the two most common chromosome abnormality diseases, it abnormal rate was 39.02% (16/41) in total chromosomal abnormality. Chromosomal mutual translocation and pericentric inversion in chromosome 9 were the two most common causes of abnormal structure in chromosome. [Conclusions] Analysis of chromosomal karyotype in 637 cases of genetic counseling shows that abnormal rate are more higher in Down′s syndrome, Turner syndrome, primarily or secondary amenorrhea cases.