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Abstract：
20p13 microdeletion syndrome has been reported to be associated with developmental delays, intellectual disability, epilepsy, and unspecific dysmorphic characteristics. However, only a few cases of 20p13 microdeletion have been described, and therefore its typical features and precise pathogenesis remain elusive.
In this article, we report the case of a 9-month-old infant who presented with a large fontanelle, facial dysmorphism, and failure to thrive. Array-comparative genomic hybridization (aCGH) analysis confirmed a 2.01-Mb microdeletion in chromosome band 20p13 that involved SOX12 and NRSN2, both of which are considered paramount causative genes in patients with 20p13 microdeletion. To elucidate the typical features of 20p13 microdeletion, we further reviewed these previously reported cases and found that motor delay (90%) was the most common manifestation, followed by language delay (60%), abnormal digits (60%), mental retardation (50%), large fontanelle (50%), electroencephalography abnormalities (50%), and seizure (40%).
This report highlights the potential of aCGH as a practical and powerful tool with which to detect submicroscopic chromosomal abnormalities in individuals presenting with a wide spectrum of phenotypes, ranging from facial dysmorphism to failure to thrive. Additionally, the literature review casts new light on the clinical features of 20p13 microdeletion.
In this article, we report the case of a 9-month-old infant who presented with a large fontanelle, facial dysmorphism, and failure to thrive. Array-comparative genomic hybridization (aCGH) analysis confirmed a 2.01-Mb microdeletion in chromosome band 20p13 that involved SOX12 and NRSN2, both of which are considered paramount causative genes in patients with 20p13 microdeletion. To elucidate the typical features of 20p13 microdeletion, we further reviewed these previously reported cases and found that motor delay (90%) was the most common manifestation, followed by language delay (60%), abnormal digits (60%), mental retardation (50%), large fontanelle (50%), electroencephalography abnormalities (50%), and seizure (40%).
This report highlights the potential of aCGH as a practical and powerful tool with which to detect submicroscopic chromosomal abnormalities in individuals presenting with a wide spectrum of phenotypes, ranging from facial dysmorphism to failure to thrive. Additionally, the literature review casts new light on the clinical features of 20p13 microdeletion.
摘要：
据报道，20p13微缺失综合征与发育迟缓有关，智力残疾,癫痫,和非特异性的变形特征。然而,仅描述了少数20p13微缺失病例，因此，其典型特征和确切的发病机制仍然难以捉摸。
在本文中,我们报告了一个9个月大的婴儿，他有一个大的fontanelle，面部畸形,未能茁壮成长。阵列比较基因组杂交（aCGH）分析证实了20p13染色体带中的2.01-Mb微缺失，涉及SOX12和NRSN2，这两个都被认为是20p13微缺失患者的最重要致病基因。为了阐明20p13微缺失的典型特征，我们进一步回顾了这些以前报道的病例，发现运动延迟（90％）是最常见的表现，其次是语言延迟(60%)，异常数字(60%)，智力低下（50%），大fontanelle(50%),脑电图异常（50％），和癫痫(40%)。
本报告强调了aCGH作为一种实用而强大的工具的潜力，可用于检测具有广泛表型的个体的亚显微染色体异常。从面部畸形到未能茁壮成长。此外,文献综述为20p13微缺失的临床特征提供了新的思路。
在本文中,我们报告了一个9个月大的婴儿，他有一个大的fontanelle，面部畸形,未能茁壮成长。阵列比较基因组杂交（aCGH）分析证实了20p13染色体带中的2.01-Mb微缺失，涉及SOX12和NRSN2，这两个都被认为是20p13微缺失患者的最重要致病基因。为了阐明20p13微缺失的典型特征，我们进一步回顾了这些以前报道的病例，发现运动延迟（90％）是最常见的表现，其次是语言延迟(60%)，异常数字(60%)，智力低下（50%），大fontanelle(50%),脑电图异常（50％），和癫痫(40%)。
本报告强调了aCGH作为一种实用而强大的工具的潜力，可用于检测具有广泛表型的个体的亚显微染色体异常。从面部畸形到未能茁壮成长。此外,文献综述为20p13微缺失的临床特征提供了新的思路。
