Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009
Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009
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DOI：
10.1002/ajmg.a.35337
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发表时间：
2012-05-01
影响因子：
2
通讯作者：
Morris, Joan K.
中科院分区：
文献类型：
--
作者：
Alberman, Eva;Mutton, David;Morris, Joan K.
这项研究描述了985例13三体和2512例18三体的细胞学和流行病学结果，与2004年至2009年英格兰和威尔士国家唐氏综合征细胞遗传学登记册中的10，255例21三体诊断相比。分析发生频率、产前诊断比例、性别比、平均母亲年龄和复发母亲比例。分别有97%、98%和92%的21、18和13三体为游离核型; 3%的21、1%的18和8%的13三体为易位; 1%以下的21和18三体为双或三倍非整倍体。总的来说，每个三体有1%的嵌合体，但48%的21三体双非整倍体和10%的18三体多非整倍体有嵌合体。21三体的活产率为40%，18三体的活产率为11%，13三体的活产率为13%。游离三体21和13有过量的男性，18有过量的女性，镶嵌自由三体21和18。21三体患者的平均母亲年龄为35.9岁，18三体患者为36.4岁，13三体患者为34.6岁。在6年的数据收集中，1%的母亲有复发，大多数复发的21或18三体是相同的易位，但异三体复发包括21和18，21和13。三染色体核型和属性之间存在显著差异，可能与其不同的起源有关。值得注意的是13三体易位的相对过量，多个非整倍体病例中的嵌合现象，以及同源和异源复发的类型。(c)2012年威利期刊公司
This study describes the cytological and epidemiological findings in 985 trisomy 13 and 2512 trisomy 18 compared with 10,255 trisomy 21 diagnoses between 2004 and 2009 included in the National Down Syndrome Cytogenetic Register of England and Wales. The frequency of occurrence, proportions diagnosed prenatally, sex ratios, mean maternal age, and proportions of mothers with recurrences were analyzed. Ninety-seven, 98%, and 92% were free karyotypes for trisomy 21, 18, and 13, respectively; 3% of 21, 1% of 18, and 8% of trisomy 13 were translocations; and under 1% of trisomies 21 and 18 were double or triple aneuploids. Overall 1% of each trisomy had mosaicism, but 48% of the trisomy 21 double aneuploids, and 10% of trisomy 18 multiple aneuploids had mosaicism. The proportion of livebirths was 40% of trisomy 21, 11% of 18, and 13% of 13, respectively. Free trisomies 21 and 13 had an excess of males, and 18 had an excess of females, as did mosaic free trisomies 21 and 18. Mean maternal ages were 35.9 years in trisomy 21, 36.4 years in 18, and 34.6 years in 13. During the 6 years of data collection 1% of the mothers had recurrences, most recurrent trisomy 21 or 18 were identical translocations, but hetero-trisomic recurrences included 21 and 18, and 21 and 13. There are significant differences between the trisomic karyotypes and attributes, possibly related to their variable origins. Notable are the relative excess of trisomy 13 translocations, mosaicism in cases with multiple aneuploidy, and the types of homo- and hetero-recurrences. (c) 2012 Wiley Periodicals, Inc.