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首页> 外文期刊>Molecular cytogenetics >Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
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Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization

机译：四术18P综合征九种新病例中的临床和分子结果：鱼类和阵列CGH表征

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Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The aim of this study is to characterize the sSMC derived from chromosome 18 by Fluorescence in situ hybridization (FISH) and Array Comparative Genomic Hybridization (aCGH). Nine children with dysmorphic features have been investigated. They have these features in common: a triangular face, low-set ears, a large mouth with a thin upper lip, and a horizontal palpebral fissure. Epicanthus and strabismus were present in two patients. In addition, we have noticed microcephaly and mental and/or developmental delay with low birth weight. However, two patients had standard birth weight; one patient had hypospadias; two had skin problems; and three showed different congenital heart defects. One patient had corpus callosum hypoplasia. Systematic karyotype analysis revealed a de novo supernumerary chromosome. Array CGH showed a gain in copy number on the short arm of chromosome 18 in the nine cases. In one case, the sSMC seemed to be in mosaic. The breakpoints of the marker were identified using aCGH and FISH. Thus, the sSMC led to 18p tetrasomy with approximately 14?Mb lengths, between 364344 and 14763575 based on the human genome version 18. These results have been completed by FISH in order to ascertain the shape of the sSMC. Our results confirm the uniqueness and particularity of the iso18p syndrome on the phenotypic as well as on the genetic level.
机译：小超值标记染色体（SSMC）是稀有染色体异常，具有异常的绷带布置并采取许多形状。几个障碍与SSMC存在相关。本研究的目的是通过荧光原位杂交（鱼）和阵列对比基因组杂交（ACGH）来表征衍生自染色体18的SSMC。已经调查了患有疑似特征的九个儿童。它们具有共同点：三角形面，低耳朵，大嘴，薄唇，水平的睑裂。两名患者中存在Epicanthus和strabismus。此外，我们注意到了微微畸形和精神和/或发育延迟，具有低出生体重。但是，两名患者有标准的出生体重;一名患者有keyphadias;两个有皮肤问题;三个表现出不同的先天性心脏缺陷。一名患者有胼callosum发育不全。系统核型分析显示了一种德诺诺上列染色体。阵列CGH在九种情况下显示了染色体18的短臂上的拷贝数。在一个情况下，SSMC似乎是马赛克。使用Acgh和Fish鉴定标记的断点。因此，基于人类基因组18，SSMC长度为18P四术，长度为约14μmB，364344和14763575。这些结果已经通过鱼完成，以确定SSMC的形状。我们的结果证实了在表型和遗传水平上的ISO18P综合征的独特性和特殊性。

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