Clinical study of MLPA technology combined with chromosomes karyotype analysis in detecting child development disorders / 国际检验医学杂志

ABSTRACT

Objective To study the clinical application value of the multiple link dependency probe amplification (MLPA) technology combined with chromosomes karyotype analysis in detecting child development abnormalities .Methods 87 children of growth and development abnormality were collected .Peripheral blood samples were extracted for conducting traditional G -banded karyotype analysis .Moreover the MLPA technique was applied to conduct the chromosome microdeletion detection .The chromo-some situation in children of development abnormality was analyzed .Results Among 87 children patients ,22 cases of abnormal karyotype were detected out ,the abnormality rate was 25 .3% ,including 10 cases of small Y chromosome karyotype(46 XY) ,2 cases of Turner syndrome ,2 case of 45 ,X karyotype ,1 case of 45 ,X/46 ,XY karyotype ,1 case of46 ,XY/45 ,XX karyotype ,1 case of 47 , XXY karyotype ,etc .Among 65 cases of normal karyotype ,microdeletion/microduplication was still found in 8 cases by MLPA . Conclusion The MLPA technology combined with karyotype analysis provide an effective and accurate detection flow process for clinically diagnosing child development abnormality and is conducive to increase the detection rate and accuracy of chromosomal abnormality .