Complex small supernumerary marker chromosomes - an update.
Complex small supernumerary marker chromosomes - an update.
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DOI：
10.1186/1755-8166-6-46
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发表时间：
2013
影响因子：
1.3
通讯作者：
Hamid AB
中科院分区：
文献类型：
--
作者：
Liehr T;Cirkovic S;Lalic T;Guc-Scekic M;de Almeida C;Weimer J;Iourov I;Melaragno MI;Guilherme RS;Stefanou EG;Aktas D;Kreskowski K;Klein E;Ziegler M;Kosyakova N;Volleth M;Hamid AB
复杂的小额外标记染色体（sSMC）通常构成sSMC的最小亚群之一。复杂的sSMC由来自一个以上染色体的染色体物质组成;该组最著名的代表是衍生染色体22 {der（22）t（11;22）}或伊曼纽尔综合征。2008年，我们推测复杂的sSMC可能是被低估的实体的一部分。在这里，总结了总体尚未报告的412个复杂sSMC。它们占所有尚未详细描述的sSMC病例的8.4%。大多数复杂sSMC由患有伊曼纽尔综合征的患者（82%）贡献。此外，还有der（22）t（8;22）（q24.1;q11.1）和der（13）t（13;18）（q11;p11.21）或der（21）t（18;21）（p11.21;q11.1）= der（13或21）t（13或21;18）综合征。后两者分别占复杂sSMC病例的2.6%和2.2%。绝大多数复杂sSMC具有着丝粒微小形状，并且源自近端着丝粒染色体。尽管如此，复杂的sSMC可以涉及来自每个染色体来源的材料。大多数复杂的sSMC是从一个亲本中的平衡易位遗传的，并且是非嵌合的。有趣的是，染色体断裂点也存在热点。在诊断中需要考虑复杂的sSMC，特别是在非马赛克、中心微小形状的sSMC中。到目前为止，已经确定了三种复杂的sSMC相关综合征。由于对复杂sSMC中的复发性断点进行了表征，因此预计在该sSMC亚组中鉴定出更多综合征。总的来说，复杂的sSMC再次强调了详细的细胞遗传学分析的重要性，特别是在特发性精神发育迟滞患者中。
Complex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material derived from more than one chromosome; the best known representative of this group is the derivative chromosome 22 {der(22)t(11;22)} or Emanuel syndrome. In 2008 we speculated that complex sSMC could be part of an underestimated entity. Here, the overall yet reported 412 complex sSMC are summarized. They constitute 8.4% of all yet in detail characterized sSMC cases. The majority of the complex sSMC is contributed by patients suffering from Emanuel syndrome (82%). Besides there are a der(22)t(8;22)(q24.1;q11.1) and a der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21;q11.1) = der(13 or 21)t(13 or 21;18) syndrome. The latter two represent another 2.6% and 2.2% of the complex sSMC-cases, respectively. The large majority of complex sSMC has a centric minute shape and derives from an acrocentric chromosome. Nonetheless, complex sSMC can involve material from each chromosomal origin. Most complex sSMC are inherited form a balanced translocation in one parent and are non-mosaic. Interestingly, there are hot spots for the chromosomal breakpoints involved. Complex sSMC need to be considered in diagnostics, especially in non-mosaic, centric minute shaped sSMC. As yet three complex-sSMC-associated syndromes are identified. As recurrent breakpoints in the complex sSMC were characterized, it is to be expected that more syndromes are identified in this subgroup of sSMC. Overall, complex sSMC emphasize once more the importance of detailed cytogenetic analyses, especially in patients with idiopathic mental retardation.
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复杂的重新排列的小型超级标记染色体（SSMC），三个新病例；被低估的实体的证据？
影响因子：
1.3
作者：
Trifonov V;Fluri S;Binkert F;Nandini A;Anderson J;Rodriguez L;Gross M;Kosyakova N;Mkrtchyan H;Ewers E;Reich D;Weise A;Liehr T
通讯作者：
Liehr T
影响因子：
9.8
作者：
Sheridan, Molly B.;Kato, Takema;Emanuel, Beverly S.
通讯作者：
Emanuel, Beverly S.
DOI：
10.2478/v10034-011-0042-z
发表时间：
2011-12
期刊：
Balkan journal of medical genetics : BJMG
影响因子：
--
作者：
Liehr T;Kosayakova N;Schröder J;Ziegler M;Kreskowski K;Pohle B;Bhatt S;Theuss L;Wilhelm K;Weise A;Mrasek K
通讯作者：
Mrasek K
影响因子：
1.7
作者：
Liehr, T;Claussen, U;Starke, H
通讯作者：
Starke, H