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目的对本地区8年间178例发育异常儿童进行细胞核型分析,了解本地区染色体畸变类型;结合发病原因和母亲孕期声像图上的遗传标记进行临床研究,评估再发风险,预防染色体畸变患儿的出生。方法本文对自2003年9月至2011年10月的178例、年龄在14周岁以下的发育异常患儿,采用外周血淋巴细胞培养,通过胰酶消化G显带进行染色体核型分析,并收集染色体畸变患儿母亲孕期年龄、是否接触辐射;等有关资料及声像检查异常结果,对染色体畸变患儿进行临床研究。结果在因小儿外貌异常、脑瘫、四肢畸形、身材矮小、智力低下、尿道下裂等发育异常的178例患儿中,共检出异常染色体76例,异常率为42.7%(76/178),染色体多态19例,所占比率为10.7%(19/178)。在76例染色体畸变患儿中,母亲预产年龄大于35岁的18例,有电子辐射等不良接触史4例,声像学异常结果 15例。结论染色体畸变是导致小儿各种发育异常的重要原因,对这些发育异常患儿进行染体核型分析是非常有必要的。同时应加强孕妇产前筛查,确定产前诊断范围,以期达到预防染色体畸变患儿出生,降低出生缺陷发生的目的。
Objective To analyze the karyotypes of 178 children with dysplasia in the region for 8 years and to understand the types of chromosomal aberrations in this area. To study the risk factors for recurrence and prevent chromosomal aberrations Born Methods In this study, 178 children with dysplasia under 14 years of age from September 2003 to October 2011 were cultured with peripheral blood lymphocytes and analyzed by karyotyping with tryptic digestion of G-band and collected Chromosome aberration in children mother’s pregnancy age, exposure to radiation; and other relevant information and abnormal results of audio-visual examination, chromosomal aberrations in children with clinical research. Results Of the 178 children with dysplasia, cerebral palsy, limb deformities, short stature, mental retardation and hypospadias, abnormal chromosomes were detected in 76 cases (42.7%, 76/178) Chromosome polymorphism in 19 cases, the rate was 10.7% (19/178). Among 76 children with chromosomal aberrations, there were 18 maternal prenatal age greater than 35 years old, 4 cases of adverse exposure such as electron radiation and 15 cases of abnormal results of acoustic imaging. Conclusion Chromosome aberration is an important cause of various developmental abnormalities in children. It is very necessary to analyze the karyotype of these chromosomes in children with dysplasia. At the same time, pregnant women should be strengthened prenatal screening to determine the scope of prenatal diagnosis, in order to achieve the purpose of preventing the birth of children with chromosomal aberrations and reducing birth defects.