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首页> 外文期刊>Molecular syndromology >A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4
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A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4

机译：低拷贝重复3/4侧翼的罕见10q22.3q23.2微缺失的新情况

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摘要

Deletions in the 10q22.3q23.2 region are rare and mediated by 2 low-copy repeats (LCRs 3 and 4). These deletions have already been recognized as the 10q22q23 deletion syndrome. The phenotype associated with this condition is rather uncharacteristic, and most common features are craniofacial dysmorphisms and developmental delay. We describe a boy with craniofacial dysmorphic features, developmental delay, tetralogy of Fallot, hand/foot abnormalities, and recurrent respiratory tract infections. Chromosomal microarray analysis disclosed a 7.8-Mb microdeletion at 10q22.3q23.2, flanked by LCRs 3/4, and an additional 16q12.1 microdeletion of 189 kb. This article reviews the clinical signs of reported cases with similar deletions and compares them with our patient, contributing to a better understanding of genotype-phenotype correlation.
机译：10q22.3q23.2区域中的缺失很少见，并且由2个低拷贝重复序列（LCR 3和4）介导。这些删除已被识别为10q22q23删除综合症。与这种情况相关的表型非常不典型，最常见的特征是颅面畸形和发育迟缓。我们描述了一个具有颅面畸形，发育迟缓，法洛四联症，手/脚异常和反复呼吸道感染的男孩。染色体微阵列分析显示在10q22.3q23.2处有7.8 Mb的微缺失，两侧是LCR 3/4，另外还有189 kb的16q12.1的微缺失。本文回顾了报告的具有相似缺失的病例的临床体征，并将其与我们的患者进行了比较，从而有助于更好地了解基因型与表型的相关性。

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