329例30岁以下孕妇子代神经发育障碍的染色体核型分析

中国儿童保健杂志 ›› 2012, Vol. 20 ›› Issue (3): 251-253.

329例30岁以下孕妇子代神经发育障碍的染色体核型分析

丁瑛雪¹,邹丽萍^2,3,陈英⁴,张礼萍³,肖静³,郑华³,崔红¹

1 首都医科大学附属北京友谊医院儿科,北京 100050;
2 中国人民解放军总医院儿童中心,北京 100039;
3 首都医科大学附属北京儿童医院神经内科与康复中心,北京 100045;
4 军事医学科学院,北京 100850

收稿日期:2011-09-25 发布日期:2012-03-06 出版日期:2012-03-06
通讯作者: 邹丽萍,E-mail: zoulingping21@hotmail.com
作者简介:丁瑛雪(1976-),女,山东人,主治医师,博士学位,主要研究方向为小儿神经病学

Cytogenectical analysis of 329 childen cases with neurological dysplasia

DING Ying-xue¹,ZOU Li-ping^2,3,CHEN Ying⁴,ZHANG Li-ping³,XIAO Jing³,ZHENG Hua³,CUI Hong¹

1 Department of Pediatrics,Beijing Friendship Hospital,Capital Medical University,Beijing 100050 China;
2 Department of Pediatrics,Chinese PLA General Hospital,Beijing 100039,China;
3 Department of Neurology, Beijing Children's Hospital,the Capital Medical University,Beijing 100045,China;
4 Academy of Military Medical Sciences,Beijing 100850,China

Received:2011-09-25 Online:2012-03-06 Published:2012-03-06

摘要/Abstract

摘要： 【目的】分析30岁以下生育妇女子代神经发育障碍染色体核型异常的类型与比例。【方法】对临床医生诊断神经发育障碍并怀疑染色体异常的329例,母亲生育年龄30岁以下的患儿进行细胞遗传学检查。【结果】 329例患儿中,检出染色体异常核型245例,异常率为74.5%。其中常染色体数目异常190例 (男∶女=2.06∶1),结构异常18例;性染色体异常共37例(15%),结构异常28例,数目异常9例。常染色体异常中最常见的是三体综合症,其中21三体综合症184例,占常染色体异常75.1%,22三体综合症6例。性染色体异常核型中最常见是脆X综合症,共28例,占性染色体异常75.5%。【结论】 30岁以下生育妇女子代神经发育障碍常见染色体核型异常仍然是唐氏综合征。

关键词: 染色体核型分析, 神经发育异常, 年轻孕妇, 儿童

Abstract: 【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

中图分类号:

R749.94

丁瑛雪,邹丽萍,陈英,张礼萍,肖静,郑华,崔红. 329例30岁以下孕妇子代神经发育障碍的染色体核型分析[J]. 中国儿童保健杂志, 2012, 20(3): 251-253.

DING Ying-xue,ZOU Li-ping,CHEN Ying,ZHANG Li-ping,XIAO Jing,ZHENG Hua,CUI Hong. Cytogenectical analysis of 329 childen cases with neurological dysplasia[J]. journal1, 2012, 20(3): 251-253.

参考文献

[1] 王新宪,朱庆生.中国0~6岁残疾儿童抽样调查报告[M].北京:中国统计出版社,2001:66-77,94-103.
[2] Chelly J,Khelfaoui M,Francis F,et al.Genetics and pathophysiology of mental retardation[J].European Journal of Human Genetics,2006,14(6):701-713.
[3] Shevell M.Global developmental delay and mental retardation or intellectual disability:conceptualization,evaluation,and etiology[J].Pediatr Clin North Am,2008,55(5):1071-1084.
[4] Shevell M,Ashwal S,Donley D,et al.Practice parameter:evaluation of the child with global developmental delay-report of the quality standards subcommittee of the American academy of neurology and the practice committee of the child neurology society[J].Neurology,2003,60(3):367-380.
[5] 王斌,陈英耀,石琦,等.我国唐氏综合征的疾病经济负担研究[J].中国卫生经济,2006,25(3):24-26.
[6] 陈英耀,王斌,李军,等.产前诊断预防唐氏综合征策略的经济学评价[J].中国卫生经济,2006,25(5):49-52.
[7] Harris RA,Washington AE,Nease Jr RF,et al.Cost utility of prenatal diagnosis and the risk-based threshold [J].Lancet,2004,363(9405):276-282.
[8] Kovaleva NV.Sex-specific chromosome instability in early human development[J].Am J Med Genet A,2005,136(4):401-413.
[9] Casado A,López-Fernández ME,Ruíz R.Lipid peroxidation in Down syndrome caused by regular trisomy 21,trisomy 21 by Robertsonian translocation and mosaic trisomy 21[J].Clin Chem Lab Med,2007,45(1):59-62.
[10] Laczmanska I,Stembalska A,Gil J,et al.Cri du chat syndrome determined by the 5p15.3→pter deletion-diagnostic problems[J].European Journal of Medical Genetics,2006,49(1):87-92.
[11] Bertone A,Hanck J,Kogan C,et al.Associating neural alterations and genotype in autism and fragile X syndrome: incorporating perceptual phenotypes in causal modeling[J].J Autism Dev Disord,2010,40(12):1541-1548.
[12] Macayran JF,Cederbaum SD,Fox MA.Diagnostic yield of chromosome analysis in patients with developmental delay or mental retardation who are otherwise nondysmorphic[J].Am J Med Genet A,2006,140(21):2320-2323.
[13] McLennan Y,Polussa J,Tassone F,et al.Fragile X syndrome[J].Curr Genomics,2011,12(3):216-224.
[14] Gottlieb S,Rey RA,Malozowski S.Klinefelter syndrome and cryptorchidism[J].JAMA,2009,301(14):1436-1437.

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