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目的探讨儿童染色体病对身长健康发展的影响。方法采用人类外周血淋巴细胞培养及染色体标本制备方法,从细胞遗传学方面对465例患者的遗传学原因进行分析。结果 465例有第二性征发育不良、早熟、生长发育障碍、智力低下的患者染色体检查出异常核型58例,其中36例21三体综合征以及涉及21号染色体的嵌合体型,2例Turner综合征单体型和4例Turner综合征嵌合型,1例为平衡易位携带者,7例伴有inv(9),1例16gh+,1例14s+,2例15s+,2例47,XXY,2例47,XYY。结论第二性征发育不良、早熟、生长发育障碍、智力低下的患者不仅与染色体异常有关而且与染色体多态性变化也有一定关联。
Objective To explore the effect of childhood chromosome disease on the healthy growth of body length. Methods Human peripheral blood lymphocyte culture and chromosome preparation methods were used to analyze the genetics of 465 patients from the perspective of cytogenetics. Results 465 cases of secondary sexual dysplasia, precocious puberty, growth and development disorders, mental retardation in patients with chromosomal abnormalities karyotype detected 58 cases, of which 36 cases of trisomy 21 and involving the chromosome 21 chimerism, 2 cases Turner syndrome haplotype and 4 cases of Turner syndrome chimerism, 1 case of balanced translocation carriers, 7 cases with inv (9), 1 case of 16gh +, 1 case of 14s +, 2 cases of 15s +, 2 cases of 47, XXY, 2 cases 47, XYY. Conclusion The secondary sexual dysplasia, precocious puberty, growth retardation and mental retardation are not only related to chromosomal abnormalities but also to the changes of the chromosome polymorphisms.