A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization.
A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization.
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DOI：
10.1186/1755-8166-6-11
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发表时间：
2013-03-06
影响因子：
1.3
通讯作者：
Zhang L
中科院分区：
文献类型：
--
作者：
Qi Q;Zhou X;Jiang Y;Hao N;Zhou J;Zhang L
染色体核型分析被认为是产前诊断中全基因组检测基因组失衡的金标准，但其存在一些固有的局限性，即培养细胞所需的时间和有限的分辨率（5 ~ 10 Mb）。虽然荧光原位杂交（FISH）也可用作常见非整倍体的快速产前诊断，但其劳动强度大，需要感兴趣区域的先验知识，并且只能用于同时诊断一个或几个基因组区域。阵列比较基因组杂交（aCGH）技术克服了染色体核型分析和FISH技术的分辨率、位点特异性和时间限制，是目前检测产前和产后临床病例染色体变异的最有效方法。几项研究表明，aCGH测试应被视为诊断胎儿细胞遗传学畸变的第一层测试。本研究应用染色体核型分析、荧光原位杂交（FISH）、序列标记位点（STS）分析和aCGH对1例先天性唐氏综合征患儿进行了产前诊断。FISH，aCGH和STS分析是有用的产前调查的性质从头改变的染色体的小片段。
Karyotyping is considered the gold standard for the genome-wide detection of genomic imbalances in prenatal diagnosis, but it has a number of inherent limitations, namely the time required to culture cell and the limited resolution(5 ~ 10 Mb). Although fluorescence in situ hybridization (FISH) can also be used as a rapid prenatal diagnosis for common aneuploidies, it is labor intensive, requires prior knowledge of the regions of interest, and can only be used to diagnose one or a few genomic regions simultaneously. Array comparative genomic hybridization (aCGH) can overcome the resolution, the locus-specific, and the time limitations of the karyotyping and FISH techniques and is currently the most powerful method for detecting chromosomal alterations in pre and postnatal clinical cases. Several investigations have suggested that the aCGH testing should be considered a first-tier test for the diagnosis of cytogenetic aberrations in the fetus. This study used karyotyping, FISH, sequence-tagged site (STS) analysis and aCGH to diagnose a case of de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome prenatally. FISH, aCGH and STS analysis are useful in prenatal investigation of the nature of de novo alterations of small fragments of the chromosome.
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影响因子：
1.3
作者：
Park SJ;Jung EH;Ryu RS;Kang HW;Ko JM;Kim HJ;Cheon CK;Hwang SH;Kang HY
通讯作者：
Kang HY
DOI：
10.1097/gim.0b013e3181f8baad
发表时间：
2010-11
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Manning M;Hudgins L;Professional Practice and Guidelines Committee
通讯作者：
Professional Practice and Guidelines Committee
影响因子：
3
作者：
Maya, Idit;Davidov, Bella;Shohat, Mordechai
通讯作者：
Shohat, Mordechai
影响因子：
64.8
作者：
Arron, Joseph R.;Winslow, Monte M.;Crabtree, Gerald R.
通讯作者：
Crabtree, Gerald R.
影响因子：
3.5
作者：
Cheon, M. S.;Dierssen, M.;Lubec, G.
通讯作者：
Lubec, G.