染色体微阵列分析技术分析胎儿染色体微缺失和微重复二例
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摘要
目的探讨利用染色体微阵列分析技术在诊断胎儿染色体微缺失和微重复中的应用价值,为产前遗传咨询提供更多信息。方法首先利用超声检查胎儿的发育情况,同时进行无创产前筛查,最后抽取脐带血细胞行染色体分析和染色体微阵列分析。结果胎儿1超声检查发现心脏畸形,脐带血染色体核型分析结果是45,XN,psu dic(5;13)(p13;p11.2),inv(9)(p11q13)[49]/46,XN,del(5)(p13),inv(9)(p11q13)[78],染色体微阵列分析结果是arr[hg19]5p15.33p13.2(113,576-35,764,608)x1;胎儿2超声检查发现胎儿发育异常,无创产前筛查提示9号染色体偏多,脐带血染色体核型分析结果是47,XN,?+psu idic(9)(q21)[43]/46,XN[57],染色体微阵列分析结果是arr[hg19]9p24.3p13.1(326,183-38,772,005)x3。结论染色体微阵列分析技术是产前超声检查发现胎儿结构异常者有效的遗传学诊断方法,可以提高产前诊断的检出率,为遗传咨询提供更多的信息。
Objective:To investigate the application of diagnosis on fetal chromosomal micro-deletion and micro-duplication with CMA,and afford more information for prenatal genetic counseling. Methods:Ultrasonic testing;NIPT;chromosome preparation and analysis;chromosomal microarray analysis. Results:The Fetal 1 is cardiac malformation,the karyotype is 45,XN,psu dic(5;13)(p13;p11.2),inv(9)(p11 q13)[49]/46,XN,del(5)(p13),inv(9)(p11 q13)[78],and the CMA result is arr[hg19]5 p15.33 p13.2(113,576-35,764,608)x1. The Fetal 2 is abnormal development with ultrasonic testing,and chromosome 9 is too more by NIPT,the karyotype is 47,XN,?+psu idic(9)(q21)[43]/46,XN[57],CMA result is arr[hg19] 9 p24.3 p13.1(326,183-38,772,005)x3. Conclusion:CMA is an effective genetic method of diagnosis on fetal abnormality,and elevate the recall ratio of prenatal diagnosis,and afford more information for prenatal genetic counseling.
Objective:To investigate the application of diagnosis on fetal chromosomal micro-deletion and micro-duplication with CMA,and afford more information for prenatal genetic counseling. Methods:Ultrasonic testing;NIPT;chromosome preparation and analysis;chromosomal microarray analysis. Results:The Fetal 1 is cardiac malformation,the karyotype is 45,XN,psu dic(5;13)(p13;p11.2),inv(9)(p11 q13)[49]/46,XN,del(5)(p13),inv(9)(p11 q13)[78],and the CMA result is arr[hg19]5 p15.33 p13.2(113,576-35,764,608)x1. The Fetal 2 is abnormal development with ultrasonic testing,and chromosome 9 is too more by NIPT,the karyotype is 47,XN,?+psu idic(9)(q21)[43]/46,XN[57],CMA result is arr[hg19] 9 p24.3 p13.1(326,183-38,772,005)x3. Conclusion:CMA is an effective genetic method of diagnosis on fetal abnormality,and elevate the recall ratio of prenatal diagnosis,and afford more information for prenatal genetic counseling.
引文
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[5]Bramswig NC,Ludecke HJ,Alanay Y,et al.Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes[J].Hum Genet,2015,134:553-568.
[6]Sousa SB,Hennekam RC.Phenotype and genotype in NicolaidesBaraitser syndrome[J].Am J Med J Genet Part C,2014,166C:302-314.
[7]Van Houdt JK,Nowakowska BA,Sousa SB,et al.Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome[J].Nat Genet,2012,44:445-449,S441.