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Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion

机译：新型近端19p13.3微缺失的眼部表现

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摘要

Microdeletions at 19p13.3 are rarely reported in the medical literature with significant phenotypic variability. Among the reported cases, common clinical manifestations have included developmental delay, facial dysmorphism, and hypotonia. Herein we described a child with a de novo 19p13.3 microdeletion, proximal to the reported cases of 19p13.3 microdeletion/duplication, with ocular manifestations of bilateral ocular colobomata complicated with microphthalmos and cataract, associated with short stature. This case highlights the phenotypic heterogeneity of deletions in the 19p13.3 region.
机译：在医学文献中很少报道19p13.3的微缺失具有明显的表型变异性。在报告的病例中，常见的临床表现包括发育迟缓，面部畸形和肌张力低下。在本文中，我们描述了一个从头进行19p13.3微缺失的儿童，与报道的19p13.3微缺失/重复病例接近，伴有双眼眼球状眼的眼部表现并发小眼球和白内障，且身材矮小。这种情况突出了19p13.3区域中缺失的表型异质性。

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