染色体异常核型.PDFVIP

窑2592 窑 南方医科大学学报(JSouthMedUniv )2010;30(11 海南省南部地区Down 综合征患儿的细胞遗传学分析院 附1例新发现的 染色体异常核型 1 2 3 1 2 3 王玉丰 袁林玲 袁陈泽燕 渊海南省第三人民医院 检验 袁 科教 袁 儿 袁海南三亚572000冤 摘要院目的 探讨海南省南部地区唐氏综合征渊Downsyndrome袁DS冤患儿染色体核型分布及特点遥方法 采用常规方法对 海南省南部地区132例疑似DS 患儿进行外周血染色体核型分析遥 结果 86例确诊为DS袁其中单纯型占93.02%袁嵌合 型和易位型均占3.49%曰91.86%的DS 患儿由年轻母亲渊35 岁冤所生袁仅8.14%由高龄产妇所生遥 另外袁我们还发现了 1 例罕见的DS合并5号和8号染色体平衡易位的染色体异常核型遥结论 海南省南部地区DS 患儿核型绝大多数为单纯 型遥 患儿母亲呈现低龄化趋势遥 关键词院唐氏综合征曰染色体曰核型分析 中图分类号院R596.1 文献标志码院A 文章编号院1673-4254渊2010冤11-2592-02 CytogeneticstudyofDownsyndromecasesinsouthernHainanProvinceandreportofarare caseofabnormalkaryotype 1 2 3 WANGYu-feng ,LINLing,CHENZe-yan 1 2 3 DepartmentofClinicalLaboratory, DepartmentofScientificEducation, DepartmentofPediatrics, ThirdPeoplesHospitalofHainan Province,Sanya572000,China Abstract:ObjectiveToinvestigatethedistributionandcharacteristicofthekaryotypesinDownsyndrome(DS )patientsin southernHainanProvince, China. Methods Cytogeneticanalysiswascarriedoutin132casesclinicallysuspectedofDS. ResultsEighty-sixofthecaseswerediagnosedasDSwithkaryotypeanalysis. AmongtheDSpatientsinsouthernHainan, 93.02%ofthecaseshadtypicaltrisomy21,3.49%hadtranslocation,and3.49%hadmosaickaryotype.ThepercentageofDS babiesbornbyyoungermothers(35years)wasgreaterthanthatofthebabiesbornbyeldermothers(91.86% vs 8.14%).In addition,acaseoftranslocationbetweenchromosomes5and8withregulartrisomy21wasidentified,whichrepresentedthe firstcaseeverreported. ConclusionTypicaltrisomy21karyotypeismorefrequentinDScasesthantranslocationandmosaic karyotypesinsouthernHainanProvince,wherethemotherdeliveringachildwithDStendstobeyounger. Keywords:Downsyndrome;chromosome;karyotype 唐氏综合征渊Downsyndrome袁DS冤又称21- 三体 其中 1例男婴袁5月袁因野身体发育迟缓冶来