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首页> 外文期刊>American journal of medical genetics, Part A >Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.
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Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.

机译：两个神经发育易感基因座的近端和远端15q25.2微缺失-基因型-表型描述。

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摘要

Distal 15q25.2 microdeletions have recently been reported as a copy number variation (CNV) locus for neurodevelopmental and neuropsychiatric disorders with variable outcome. In addition, more proximal microdeletions of 15q25.2 have been described as a susceptibility locus for cognitive deficits, congenital diaphragmatic hernia (CDH), and Diamond-Blackfan anaemia (DBA). We describe two patients with 15q25.2 deletion, one with the more distal deletion and the other with a deletion overlapping both the distal and proximal 15q25.2 deletions and compare them to the 18 so far reported patients with 15q25.2 deletions. We provide a characterization of the 15q25.2 microdeletions and contribute to the genotype-phenotype delineation for these two novel microdeletion syndromes.
机译：最近已报道远距离15q25.2微缺失是神经发育和神经精神疾病具有可变结果的拷贝数变异（CNV）基因座。此外，更多的近端微缺失15q25.2已被描述为认知缺陷，先天性diaphragm肌疝（CDH）和钻石-布莱克范贫血（DBA）的易感性位点。我们描述了两名患者的15q25.2缺失，一个患者远端缺失更多，而另一个患者的缺失重叠了远端和近端15q25.2缺失，并将它们与迄今报道的18位15q25.2缺失的患者进行了比较。我们提供了15q25.2微缺失的表征，并为这两种新型微缺失综合症的基因型-表型描述做出了贡献。

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