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首页> 外文期刊>American journal of medical genetics, Part A >Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability
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Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

机译：远端17p13.1中的微缺失：具有小头畸形，独特的面部特征和智力障碍的可识别表型

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摘要

Array comparative genomic hybridization has led to the identification of new syndromes by identifying genomic imbalances not detectable by standard karyotyping methods and by allowing correlations with physical findings. Deletions in the 17p13.1 region have been reported in patients with dysmorphic features and developmental delay but a consistent phenotype has yet to emerge. This report describes two unrelated patients with a characteristic phenotype associated with overlapping de novo deletions in the distal region of 17p13.1 detected with array comparative genomic hybridization and confirmed by real-time PCR. These patients share remarkably similar clinical features including microcephaly, mild developmental delay, generalized joint laxity, and a body posture with knee and elbow flexion and hands held in midline. They have distinctive facial features which include long midface with retrognathia with overbite, and protruding ears. The deletions in both patients are the smallest ever reported in this region (approximately 252 and 219kb). The overlapping region contains 18 genes. Various isolated deletions of the17p13.1 region have been reported previously without delineation of a consistent phenotype. We propose that the described microdeletions in the distal portion of 17p13.1 represent a novel microdeletion syndrome.
机译：阵列比较基因组杂交通过鉴定标准核型分析方法无法检测到的基因组失衡，并允许与物理发现相关联，从而导致了新综合征的鉴定。据报道，具有畸形特征和发育延迟的患者存在17p13.1区域的缺失，但尚未出现一致的表型。该报告描述了两名不相关患者，这些患者的特征表型与通过阵列比较基因组杂交检测并通过实时PCR证实的17p13.1远端区域中的从头重复缺失相关。这些患者具有非常相似的临床特征，包括小头畸形，轻度发育迟缓，全身关节松弛，膝盖和肘部屈曲的身体姿势以及中线握住的手。它们具有独特的面部特征，包括长的中脸，咬合的逆行和耳朵突出。两名患者的缺失均是该区域报告的最小缺失（约252和219kb）。重叠区域包含18个基因。先前已经报道了17p13.1区域的各种分离的缺失，没有描绘出一致的表型。我们建议在17p13.1的远端部分中描述的微缺失代表一种新型的微缺失综合征。

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