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首页> 外文期刊>Clinical epigenetics. >Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge
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Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge

机译：马赛克全基因组的母亲二倍体：印记障碍的一种极端形式，代表产前诊断挑战

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class="Heading">Background id="Par1" class="Para">Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole genome is usually not compatible with life, with the exception of very rare cases of patients with mosaic genome-wide uniparental disomy reported in the literature. class="Heading">Results id="Par2" class="Para">We here report on a fetus with intrauterine growth retardation and malformations observed on prenatal ultrasound leading to invasive prenatal testing. By cytogenetic (conventional karyotyping), molecular cytogenetic (QF-PCR, FISH, array), and methylation (MS-MLPA) analyses of amniotic fluid, we detected mosaicism for one cell line with genome-wide maternal uniparental disomy and a second diploid cell line of biparental inheritance with trisomy X due to paternal isodisomy X. As expected for this constellation, we observed DNA methylation changes at all imprinted loci investigated. class="Heading">Conclusions id="Par3" class="Para">This report adds new information on phenotypic outcome of mosaic genome-wide maternal uniparental disomy leading to an extreme form of multilocus imprinting disturbance. Moreover, the findings highlight the technical challenges of detecting these rare chromosome disorders prenatally.
机译：class =“ Heading”>背景 id =“ Par1” class =“ Para”>某些染色体的单亲二体性与一组著名的遗传综合症（称为烙印障碍）有关。但是，影响整个基因组的单亲二体性的极端形式通常与生命不相容，但文献中报道的极少数病例发生了镶嵌基因组范围的单亲二体性疾病。 class =“ Heading “>结果 id =” Par2“ class =” Para“>我们在此报告了一种胎儿，该胎儿在产前超声检查中观察到子宫内发育迟缓和畸形，从而导致侵入性产前检查。通过羊水的细胞遗传学（常规核型分析），分子细胞遗传学（QF-PCR，FISH，阵列）和甲基化（MS-MLPA）分析，我们检测到一种具有全基因组母体单亲二体性和第二个二倍体细胞的细胞株的镶嵌性。父本等位线X导致双亲遗传与三体性X的遗传关系。如预期的那样，我们在研究的所有印迹基因座上观察到DNA甲基化变化。 class =“ Heading”>结论 id =“ Par3” class =“ Para”>此报告添加了有关镶嵌全基因组的母亲单亲二体性的表型结果的新信息，从而导致极端的多位点印迹障碍。而且，这些发现突出了在产前检测这些罕见染色体疾病的技术挑战。

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