Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989-2009
Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989-2009
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DOI：
10.1002/ajmg.a.35248
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发表时间：
2012-05-01
影响因子：
2
通讯作者：
Jacobs, Patricia
中科院分区：
文献类型：
--
作者：
Morris, Joan K.;Alberman, Eva;Jacobs, Patricia
本研究描述了1989年至2009年间英格兰和威尔士29,256例唐氏综合征（21三体）的核型特征，这些病例被纳入了国家唐氏综合征细胞遗传登记册（NDSCR）。分析不同核型的发生频率、产前诊断比例、性别比例、母亲平均年龄和母亲复发比例。近97%的病例为游离21三体；贡献型21三体2.9%，双或三倍非整倍体0.3%；其中1%是马赛克。游离三体21例的平均母亲年龄为35岁，54%为男性，1%的母亲有复发。游离21三体嵌合体的母亲平均年龄较低（33岁），男性比例较低（39.5%），2.5%的母亲有复发。大多数的贡献易位是罗伯逊或rea（21;21）。他们的母亲更年轻，尤其是那些罗伯逊易位的母亲（28岁）。已知亲本来源的罗伯逊氏症（14;21）易位中，54%为新生易位，41%为母本易位，5%为父本易位，15.8%的母本易位复发。多重非整倍体男性比例最高（67%），嵌合体比例最高（40%），平均母亲年龄为37岁，没有母亲复发。这个国家登记的规模允许罕见的唐氏综合症核型的发生频率进行估计和他们的流行病学描述。(c) 2012 Wiley期刊有限公司
This study describes the characteristics of karyotypes leading to phenotypic Down syndrome (trisomy 21) in 29,256 cases diagnosed between 1989 and 2009 in England and Wales included in the National Down Syndrome Cytogenetic Register (NDSCR). The frequency of occurrence of the different karyotypes, proportions diagnosed prenatally, sex ratios, mean maternal age, and proportions of mothers with recurrences were analyzed. Nearly 97% of all cases were free trisomy 21; 2.9% contributory trisomy 21, 0.3% double or triple aneuploidies; 1% of all were mosaics. Mean maternal age of free trisomy 21 cases was 35 years, 54% were male, and 1% of mothers had recurrences. Free trisomy 21 mosaics had a lower mean maternal age (33 years), a lower proportion of males (39.5%), and 2.5% of mothers had recurrences. The majority of contributory translocations were Robertsonian or rea (21;21). Their mothers were younger, particularly those of Robertsonian translocations (28 years). Of the Robertsonian der (14;21) translocations of known parental origin, 54% were de novo, 41% maternal and 5% paternal and 15.8% of mothers of those of maternal origin had recurrences. Multiple aneuploidies have the highest proportion of males (67%), highest proportion of mosaics (40%), a mean maternal age of 37 years, and no mothers had a recurrence. The size of this national register allowed the frequency of occurrence of the rarer karyotypes of Down syndrome to be estimated and their epidemiology described. (c) 2012 Wiley Periodicals, Inc.