ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 14 Issue : 3 Year : 2022
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2022; 14(3): 339-343 | DOI: 10.4274/jcrpe.galenos.2020.2020.0100

Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review

Lu Qin1, Fei-Zhou Zhang1, Jian-Hai Lv2, Lan-Fang Tang2
1Children’s Hospital of Zhejiang University School of Medicine, Department of Pulmonology, Zhejiang, China
2Shangyu People’s Hospital, Clinic of Pediatrics, Zhejiang, China

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 AMMECR1 and CHRDL1 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 AMMECR1 and two cases with CHRDL1 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 AMMECR1 and CHRDL1 with some phenotype difference from the presented case. Xq23 microdeletion should be considered for patients with microsomia, midface hypoplasia, kidney dysplasia and growth retardation.

Keywords: Xq23 microdeletion, midface hypoplasia, kidney dysplasia, growth retardation

Lu Qin, Fei-Zhou Zhang, Jian-Hai Lv, Lan-Fang Tang. Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review. J Clin Res Pediatr Endocrinol. 2022; 14(3): 339-343

Corresponding Author: Lan-Fang Tang, China
Manuscript Language: English
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