Abstract: 【Abstract】Objective To investigate the diagnostic value of new genetic technology in the child with developmental delay and mental retardation. Method The peripheral blood and urine of 180 children with developmental retardation which were collected from the patients in the child care department from September 2013 to September 2014 were analyzed using chromosomal karyotype analysis, MLPA ,genetic mutation analysis, MS-MS and GC-MS. Results The anomaly detection rate was 27.2% (49/180), fortyninepercent (24/49）of the cases were diagnosed by chromosomal karyotype analysis icluding 15 cases ofDown’s syndrome and 9 cases of other chromosome abnormality, fifty-one percent (25/49) of the cases were diagnosed by new genetic technology including 14 cases of chromosome microdeletion syndromes, 6 cases of inherited metabolic diseases and 5 cases caused by gene mutation. Three cases of Prader-Willi syndrome ,two cases of Angelman syndrome ,22q13 deletion syndrome and Smith—Magenis syndrome and one cases of cat cry syndrome, 22q11 deletion syndrome and 1p36 deletion syndrome were included in the fourteen cases of chromosome microdeletion syndromes.Three cases of methylmalonic acid , one cases of maple syrup urine disease, tyrosinemia and glutaric aciduria were included in the six inherited metabolic diseases.Three cases offragile X syndrome and two cases of Cornelia de Lange syndrome were diagnosed by gene mutation analysis.Conclusions New genetic technology improved the level of diagnosis in the child care department,children
with normal chromosome examination cannot be excluded chromosome microdeletion syndrome and inherited metabolic diseases.The chromosomal karyotype analysis, MLPA ,genetic mutation analysis, MSMS and GC-MS play complementary role in clinical applications,and cannot be replaced by each other.The genetic testing technology should be selected based on special faces and clinical characteristics .
黎芳 宇亚芬 麻宏伟. 遗传学新技术在发育迟缓患儿病因诊断中的应用价值[J]. 发育医学电子杂志, 2015, 3(1): 24-27.
LI Fang, YU Ya-fen, Ma Hong-wei. The application of new genetic technology in the children with developmental delay and mental retardation. Journal of Developmental Medicine(Electronic Version), 2015, 3(1): 24-27.
2015, Vol. 3 
