Cytogenetics and Polygenic Factor Analysis of 364 Female Children with Short Stature / 实用儿科临床杂志

ABSTRACT

Objective To explore the effect of chromosomal abnormality and polygenic inheritance factor in female children with short stature.Methods 1.Chromosome analysis:peripheral blood was drawn for 1 mL and cultured 72 h to analyze chromosome karyotype (Giemsa Banding ) of peripheral lymphocytes.2.Polygenic factor analysis:the children′s final height were estimated based on their parents average height,and analyzed the distribution characteristics of children′s final height and compared the estimate final height with the actual height.Results Eighty-three cases out of the 364 female children with short stature were chromosomal abnormality(22.80%).Among the 83 cases,the 45,XO and 46,X,i(Xq) occupied 70%.The distribution of children target height shifted left,and the target height of 76 cases was lower than 2 standard deviation (-2 s)and the consistency of target height and actual height reached 20.88%.The target height of 7 cases was lower than 2 standard deviation in those whose chromosome turned out to be abnormal,and the consistency of target height and actual height was 8.43%.Conclusions Chromosomal abnormality is one of the most important etiologic agents causing short stature in female children, and polygenic inheritance is another important etiologic agent.