Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13
Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13
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DOI：
10.1002/ajmg.a.31091
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发表时间：
2006-03-01
影响因子：
2
通讯作者：
Thomas, NS
中科院分区：
文献类型：
--
作者：
Dennis, NR;Veltman, MWM;Thomas, NS
我们介绍了33名受试者的临床数据，其中包含在超级标记染色体（SMC）中的Prader-Willi-Angelman关键区域（PWACR）的其他副本。 23名受试者具有典型的大型非摩西SMC（15），其中包含两个PWACR副本。他们显示出可变但通常严重的学习障碍和自闭症的表型，癫痫发作约为三分之二。其他10种与这种典型模式有关的镶嵌，拷贝数，数量或排列在SMC中或每个细胞中的SMC数量的变化。随着PWACR的其他副本的数量，临床严重程度增加，并在正常细胞系中随着镶嵌性的减少。有更多的癫痫发作与更严重的学习障碍有关。 15q11-Q13的三个具有间质三分一式三位生的受试者显示出与典型大SMC相似的一系列表型（15）。该系列中PWACR的所有其他副本都是母体衍生的。鱼类和分子，将重排的断点的位置的数据先前已发表或包括在本报告中。在近端和PWACR远端的断点的特定临床特征和变化之间没有发现相关性。 （c）2006 Wiley-Liss，Inc。
We present clinical data on 33 subjects with additional copies of the Prader-Willi-Angelman critical region (PWACR) contained in a Supernumerary marker chromosome (SMC). Twenty-three subjects had a typical large non-mosaic SMC(15) containing two copies of the PWACR. They showed a variable but generally severe phenotype of learning disability and autism, With seizures in approximately two-thirds. The other 10 differed from this typical pattern in respect of mosaicism, variation in copy, number, or arrangement of the PWACR within the SMC Or number of SMC per cell. Clinical severity increased with the number of additional copies of the PWACR and decreased with mosaicism for a normal cell line. There was a trend for a larger number of seizures to be associated with more severe learning disability. Three subjects with interstitial triplications of 15q11-q13 showed a range of phenotypes similar to those of the typical large SMC(15). All additional copies of the PWACR in this series Were maternally-derived. FISH and molecular, data localizing the breakpoints of the rearrangements have been previously published or are included in this report. No correlations were found between specific clinical features and variations in breakpoints proximal and distal to the PWACR. (c) 2006 Wiley-Liss, Inc.