首页> 外文期刊>European journal of human genetics: EJHG >Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
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Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.

机译:父母插入平衡易位是发育异常患者中明显新生CNV的重要原因。

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摘要

In several laboratories, genome-wide array analysis has been implemented as the first tier diagnostic test for the identification of copy number changes in patients with mental retardation and/or congenital anomalies. The identification of a pathogenic copy number variant (CNV) is not only important to make a proper diagnosis but also to enable the accurate estimation of the recurrence risk to family members. Upon the identification of a de novo interstitial loss or gain, the risk recurrence is considered very low. However, this risk is 50% if one of the parents is carrier of a balanced insertional translocation (IT). The apparently de novo imbalance in a patient is then the consequence of the unbalanced transmission of a derivative chromosome involved in an IT. To determine the frequency with which insertional balanced translocations would be the origin of submicroscopic imbalances, we investigated the potential presence of an IT in a consecutive series of 477 interstitial CNVs, in which the parental origin has been tested by FISH, among 14,293 patients with developmental abnormalities referred for array. We demonstrate that ITs underlie ~2.1% of the apparently de novo, interstitial CNVs, indicating that submicroscopic ITs are at least sixfold more frequent than cytogenetically visible ITs. This risk estimate should be taken into account during counseling, and warrant parental and proband FISH testing wherever possible in patients with an apparently de novo, interstitial aberration.
机译:在一些实验室中,全基因组阵列分析已被用作诊断智力障碍和/或先天性异常患者的拷贝数变化的第一级诊断测试。病原拷贝数变异(CNV)的识别不仅对于做出正确的诊断很重要,而且对于准确估计家庭成员的复发风险也很重要。一旦确定了从头组织间质的损失或增加,则风险复发被认为是非常低的。但是,如果父母中的一个是平衡插入移位(IT)的携带者,则此风险为50%。那么,患者中显然从头的不平衡是IT中涉及的衍生染色体传输不平衡的结果。为了确定插入平衡易位是亚显微失衡起源的频率,我们调查了14293例发育不良患者中连续477例间质CNV中的IT潜在存在,其中FISH检测了其亲本起源。异常称为数组。我们证明,IT占新生的间质CNV的〜2.1%,这表明亚微观IT的频率至少比细胞遗传学IT的频率高六倍。在咨询过程中应考虑这一风险估计,并在可能出现明显新生间隙异常的患者中,尽可能进行父母和先证者FISH测试。

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