目的 探讨广西地区儿童遗传咨询患儿中异常核型和临床表型的关系。方法 采用细胞培养及G 显带的方法，对2009 年1 月至2012 年7 月进行儿童遗传咨询的601 例患儿行细胞遗传学及临床分析。结果 在601 例受检者中检出329 例异常核型，包括8 种人类染色体新核型，检出率为54.7%。329 例异常染色体核型中，数目异常317 例（96.4%），结构异常12 例（3.6%）。异常染色体核型在临床上多以唐氏综合征（245/329，74.5%）、发育迟缓（36/329，10.9%）、智力低下（10/329，3.0%）等表现为主。结论 发现了8 例罕见的染色体异常核型，为分析儿童遗传学研究及病因学分析提供了新的资源。
Abstract
Objective To study the relationship between abnormal karyotypes and clinical phenotypes among children in genetic counseling in Guangxi Zhuang Autonomous Region, China. Methods We studied 601 children who visited Guangxi Zhuang Autonomous Region Women and Children Care Hospital for genetic counseling between January 2009 and July 2012. Blood samples were cultured routinely for karyotype analysis with G banding as well as clinical analysis. Results Out of 601 patients, 329 (54.7%) had chromosomal abnormalities, and 8 new abnormal human karyotypes were found. Among 329 children with abnormal karyotypes, 317 (96.4%) had an abnormal number of chromosomes, and 12 (3.6%) had abnormal chromosomal structure. Abnormal karyotypes were clinically manifested by Down's syndrome (74.5%), growth retardation (10.9%), and mental retardation (3.0%). Conclusions Eight rare abnormal karyotypes were found in the study, providing new resources for the genetic studies and etiological analysis of growth retardation, mental retardation, gonadal dysgenesis, and multiple congenital anomalies in children.
关键词
染色体异常 /
智力低下 /
遗传咨询 /
儿童
Key words
Chromosomal abnormality /
Mental retardation /
Genetic counseling /
Child
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参考文献
[1] Stevenson RE, Holden KR, Rogers RC, et al. Seizures and X-linked intellectual disability[J]. Eur J Med Genet, 2012, 55(5): 307-312.
[2] Mefford HC, Batshaw ML, Hoffman EP, et al. Genomics, intellectual disability, and autism[J]. N Engl J Med, 2012, 366(8): 733-743.
[3] Lana-Elola E, Watson-Scales SD, Fisher EM, et al. Down syndrome: searching for the genetic culprits[J]. Dis Model Mech, 2011, 4(5): 586-595.
[4] Ronan A, Fagan K, Christie L, et al. Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region[J]. J Med Genet, 2007, 44(7): 448-451.
[5] Keymolen K, Staessen C, Verpoest W, et al. Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles[J]. Eur J Hum Genet, 2012, 20(4): 376-380.
[6] Bernardini L, Alesi V, Loddo S, et al. High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?[J]. Eur J Hum Genet, 2010, 18(2): 178-185.
[7] Tucker T, Montpetit A, Chai D, et al. Comparison of genomewide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation[J]. BMC Med Genomics, 2011, 25(4): 25.
[8] Mefford HC, Eichler EE. Duplication hotspots, rare genomic disorders and common disease[J]. Curr Opin Genet Dev, 2009, 19(3): 196-204.
[9] 王红, 金煜炜, 翟宇晋, 等. Turner 综合征232 例染色体核 型、诊断年龄和身高分析[J]. 中华儿科实用临床杂志, 2013, 28(8): 596-599.
[10] Larson A, Nokoff NJ, Travers S. Disorders of sex development: clinically relevant genes involved in gonadal differentiation[J]. Discov Med, 2012, 14(78): 301-309.
[11] 向萍霞, 戴翔, 冷培, 等. SRY 基因检测在儿童性发育疾病 诊断中的应用[J]. 中国当代儿科杂志, 2013, 15(7): 555-558.
基金
广西壮族自治区科技攻关项目（09300A-9）。
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