Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 16, 2021; 9(20): 5526-5534
Published online Jul 16, 2021. doi: 10.12998/wjcc.v9.i20.5526
Duplication of 19q (13.2-13.31) associated with comitant esotropia: A case report
Yue-Lan Feng, Ning-Dong Li
Yue-Lan Feng, Ning-Dong Li, Department of Ophthalmology, National Center for Children's Health, Beijing Children’s Hospital, Capital Medical University, Beijing 100045, China
Yue-Lan Feng, Department of Ophthalmology, First Hospital Affiliated to Baotou Medical College, Baotou 014010, Inner Mongolia Autonomous Region, China
Author contributions: Feng YL and Li ND conducted a clinical examination of the patient and drafted the manuscript; All authors read and approved the final manuscript.
Informed consent statement: Consent was obtained from relatives of the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ning-Dong Li, MD, Doctor, Department of Ophthalmology, National Center for Children's Health, Beijing Children’s Hospital, Capital Medical University, No. 56 South Lishi Road, Xicheng District, Beijing 100045, China. lnd30@163.com
Received: November 4, 2020
Peer-review started: November 4, 2020
First decision: December 21, 2020
Revised: December 23, 2020
Accepted: March 11, 2021
Article in press: March 11, 2021
Published online: July 16, 2021
Processing time: 240 Days and 20.2 Hours
Abstract
BACKGROUND

Comitant esotropia is the most common form of strabismus. It is caused by heterogeneous environmental and genetic risk factors. The pure duplication of the long arm of chromosome 19 is a rare abnormality. Only 8 patients with partial trisomy of the long arm of chromosome 19q have been reported to date. Here, we describe a girl with pure duplication of 19q, who was diagnosed with congenital esotropia, microcephaly, and gallbladder agenesis.

CASE SUMMARY

The patient was diagnosed with esotropia when she was 1-year-old. The Krimsky method showed +50 prism diopters in the primary gaze position. No additional abnormal findings were observed following slit lamp and fundus examination, but the features of the full-field electroretinogram showed a decreased amplitude and increased implicit times. Magnetic resonance imaging showed ventriculomegaly with thinning of the corpus callosum and splenium in her brain. A 4.42 Mb mosaic duplication within 19q13.2-q13.31 region (chr19:39,343,725 to 43,762,586) was detected by microarray comparative genomic hybridization.

CONCLUSION

Strabismus is reported in many live borns with pure duplication of 19q. This important clinical characteristic indicates that the candidate genes fundamental for this phenotype may be narrowed to genes within the 19q13.3-q13.31 region. There were two candidate genes observed that may contribute to the comitant esotropia phenotype, namely XRCC1 (19:43,543,311) and SMG9 (19:43,727,991).

Keywords: Duplication; 19q; Esotropia; Strabismus; XRCC1; SMG9; Case report

Core Tip: The pure duplication of 19q is a rare chromosome abnormality that may affect a number of genes. Patients with 19q abnormality show a complicated syndrome such as developmental delay, dysmorphic features, and clinical nurse specialist malformations. To date, only 8 patients with partial trisomy of 19q have been reported. Here, we describe a girl with pure duplication of 19q, who was diagnosed with congenital esotropia, microcephaly, and gallbladder agenesis.