【Objective】 To investigate the types and proportion of chromosomal abnormalities in patients with neurological dysplasia and pregnant women under 30 years old. 【Method】 329 cases,who were diagnosed neurological dysplasia and mother reproductive age less than 30 years old,were performed by karyotype analysis of peripheral blood. 【Results】 Among 329 cases,245 cases were found abnormal karyotype ( 74.5% ) .The percentage of euchromosome abnormalities was 85% (208 cases),including 190 cases of number abnormalities (190/245,36.7% ) and 18 cases of structure abnormalities (18/245,7.35% )from which 184 cases were Down syndrom,6 cases were 22 trisomy,the abnormal rate of boys was much higher than that of girls,boys∶girls=2.06∶1 .The percentage of sex chromosome abnormalities was 15 % ( 37 cases),including 9 cases of number abnormalities (9/245,3.67 % ),28 cases of structure abnormalities (28/245,11.4%);Of which the most common karyotype was fragil X syndrome,total 28 cases.Klinefelter syndrome was the common number abnormalities,karyotype 47,XXY( 4 cases);the main aneuploid forms of sex chromosome were 47,XYY(3 cases ),47,XXX(1 case ),49,XXXY(1 case ). 【Conclusion】 Down syndrome is still a common chromosomal abnormality among pregnant women under 30 years old.
Key words
chromosomal abnormality /
abnormal karyotype /
neurological dysplasia /
children
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