Qin Lu, Zhang Fei-Zhou, Lv Jian-Hai, Tang Lan-Fang
Children’s Hospital of Zhejiang University School of Medicine, Department of Pulmonology, Zhejiang, China
Shangyu People’s Hospital, Clinic of Pediatrics, Zhejiang, China
J Clin Res Pediatr Endocrinol. 2022 Aug 25;14(3):339-343. doi: 10.4274/jcrpe.galenos.2020.2020.0100. Epub 2021 Feb 4.
Xq22.3-q23 microdeletion is a rare genomic disorder. The purpose of this study was to emphasize the correlation between clinical phenotype and genotype of proximal deletion on chromosome Xq22.3-q23. A 5 years old boy had a 671 KB microdeletion on Xq23 by chromosomal microarray analysis, including and genes. He presented with microsomia, midface hypoplasia, right kidney dysplasia and mildly motor retardation, which have not previously been reported in relation to Xq23 deletion. To the best of our knowledge, this is the first case with Xq23 microdeletion. A total of nine cases with microdeletion at Xq22.3-q23 affecting and two cases with mutation were reviewed. This review showed that Xq23 microdeletion with microsomia, midface hypoplasia, kidney dysplasia, and mild motor retardation was rare. The previous literature showed two novel point mutations in and with some phenotype difference from the presented case. Xq23 microdeletion should be considered for patients with microsomia, midface hypoplasia, kidney dysplasia and growth retardation.
Xq22.3-q23微缺失是一种罕见的基因组疾病。本研究的目的是强调Xq22.3-q23近端缺失的临床表型与基因型之间的相关性。一名5岁男孩经染色体微阵列分析发现Xq23存在671 KB的微缺失，包括[具体基因1]和[具体基因2]基因。他表现为身材矮小、面中部发育不全、右肾发育不良和轻度运动迟缓，此前尚未有关于Xq23缺失的相关报道。据我们所知，这是首例Xq23微缺失病例。我们回顾了总共9例Xq22.3-q23微缺失累及[具体基因1]和[具体基因2]的病例以及2例[具体基因]突变的病例。该综述表明，伴有身材矮小、面中部发育不全、肾发育不良和轻度运动迟缓的Xq23微缺失较为罕见。先前的文献报道了[具体基因1]和[具体基因2]中的两个新的点突变，其表型与本病例存在一些差异。对于身材矮小、面中部发育不全、肾发育不良和生长迟缓的患者，应考虑Xq23微缺失的可能性。
