5329例遗传咨询儿童细胞遗传学分析
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摘要
目的分析遗传咨询儿童染色体核型,探讨染色体异常与疾病的关系。方法对5 329例遗传咨询儿童外周血染色体核型分析的结果进行回顾性研究分析。结果共检出染色体异常核型1 723例,检出率为32.33%;其中染色体数目异常1 539例(占89.32%)、染色体结构异常125例(占7.25%)、性反转53例(占3.08%)、真两性畸形6例(占0.35%);另检出染色体多态性228例,检出率为4.28%。结论染色体数目异常仍是最常见的染色体畸变类型,是导致智力低下、身材矮小及性发育异常等临床表型的重要原因之一。
Objective To explore the relationship between chromosomal abnormalities and diseases in children by analyzing chromosome karyotypes. Methods The chromosome karyotype analysis of peripheral lymphocytes in 5 329 children was performed. Results In all,abnormal karyotype were found in 1 723 cases(32.33%), in which the numerical chromosome abnormalities were detected in 1 539( 89.32%), following by 125 cases of structural chromosome abnormalities(7.25%), 53 cases of sex reverse syndrome( 3.08%), and 6 cases of true hermaphroditism(0.35%). The chromosome polymorphism were detected in 228 cases(4.28%). Conclusions The numerical chromosome abnormalities is most frequent chromosomal aberration and is one of the important causes that result in mental retardation, growth delay and disorders of sex development in children.
Objective To explore the relationship between chromosomal abnormalities and diseases in children by analyzing chromosome karyotypes. Methods The chromosome karyotype analysis of peripheral lymphocytes in 5 329 children was performed. Results In all,abnormal karyotype were found in 1 723 cases(32.33%), in which the numerical chromosome abnormalities were detected in 1 539( 89.32%), following by 125 cases of structural chromosome abnormalities(7.25%), 53 cases of sex reverse syndrome( 3.08%), and 6 cases of true hermaphroditism(0.35%). The chromosome polymorphism were detected in 228 cases(4.28%). Conclusions The numerical chromosome abnormalities is most frequent chromosomal aberration and is one of the important causes that result in mental retardation, growth delay and disorders of sex development in children.
引文
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[7]SEO G H,KANG E,CHO J H,et al.Turner syndrome presented with tall stature due to overdosage of the SHOX gene[J].Ann Pediatr Endocrinol Metab,2015,20(2):110-113.
[8]OLIVEIRA C S,ALVES C.The role of the SHOX gene in the pathophysiology of turner syndrome[J].Endocrinol Nutr,2011,58(8):433-442.
[9]罗小金,郭岩芸,朱自然,等.身材矮小儿童的细胞遗传学分析[J].实用医学杂志,2016,32(6):976-978.
[10]刘念,阎炯,宋婕萍,等.复发性流产患者夫妇的细胞遗传学结果分析[J].中国妇幼保健,2015,30(22):3858-3860.
[11]欧珊,欧惠,唐斌,等.反复流产夫妇的染色体异常及多态性分析[J].实用妇产科杂志,2015,31(5):376-379.
[12]唐芳,陶晓海,卢航,等.染色体异常、染色体多态性与生殖异常的相关性分析[J].海南医学,2015,26(16):2379-2381.
[13]邢长英,周玲,杨燕,等.高通量基因测序分析119例胚胎停育染色体核型[J].实用医学杂志,2017,33(22):3841-3842.
[2]International standing committee on human cytogenetic nomenclature,ISCN 2016:An international system for human cytogenetic nomenclature(2016)[M].Berlin:Karger Publishers,2016:34-36.
[3]韩宁,邝璐,朱冰,等.广州地区2583例遗传咨询患儿细胞遗传学分析[J].中国优生与遗传杂志,2017,25(6):60-61.
[4]CHEN S,LIU D,ZHANG J,et al.A copy number variation genotyping method for aneuploidy detection in spontaneous abortion specimens[J].Prenat Diagn,2017,37(2):176-183.
[5]BIRT M.Advancing maternal age and trisomy screening:the practice challenges of facilitating choice and gaining consent[J].Pract Midwife,2015,18(11):11-15.
[6]索庆丽,胡晞江,刘翎,等.960例21号染色体异常核型分析[J].现代预防医学,2012,39(19):5098-5100.
[7]SEO G H,KANG E,CHO J H,et al.Turner syndrome presented with tall stature due to overdosage of the SHOX gene[J].Ann Pediatr Endocrinol Metab,2015,20(2):110-113.
[8]OLIVEIRA C S,ALVES C.The role of the SHOX gene in the pathophysiology of turner syndrome[J].Endocrinol Nutr,2011,58(8):433-442.
[9]罗小金,郭岩芸,朱自然,等.身材矮小儿童的细胞遗传学分析[J].实用医学杂志,2016,32(6):976-978.
[10]刘念,阎炯,宋婕萍,等.复发性流产患者夫妇的细胞遗传学结果分析[J].中国妇幼保健,2015,30(22):3858-3860.
[11]欧珊,欧惠,唐斌,等.反复流产夫妇的染色体异常及多态性分析[J].实用妇产科杂志,2015,31(5):376-379.
[12]唐芳,陶晓海,卢航,等.染色体异常、染色体多态性与生殖异常的相关性分析[J].海南医学,2015,26(16):2379-2381.
[13]邢长英,周玲,杨燕,等.高通量基因测序分析119例胚胎停育染色体核型[J].实用医学杂志,2017,33(22):3841-3842.