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©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 6, 2020; 8(21): 5296-5303
Published online Nov 6, 2020. doi: 10.12998/wjcc.v8.i21.5296
Published online Nov 6, 2020. doi: 10.12998/wjcc.v8.i21.5296
Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report
Jaime Toral-Lopez, Departamento de Genética Medica, Centro Medico Ecatepec, ISSEMYM, Ecatepec 55000, México
Jaime Toral-Lopez, Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud/Hospital Infantil de México, Universidad Nacional Autónoma de México, México 06720, México
Luz María González Huerta, Departamento de Biología Molecular, Hospital General de México, Cuauhtémoc 06720, México
Olga Messina-Baas, Departamento de Oftalmología, Hospital General de México, Cuauhtémoc 06720, México
Sergio A Cuevas-Covarrubias, Genetica, Hospital General de México, Cuauhtémoc 06726, Mexico
Sergio A Cuevas-Covarrubias, Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, Universidad Nacional Autónoma de México, México 06720, Mexico
Author contributions: Toral-Lopez J was the patient’s geneticist doctor, reviewed the literature, designed the study and contributed to manuscript drafting; Gonzalez-Huerta LM, analyzed and interpreted the molecular karyotyping and contributed to manuscript drafting; Messina Baas O performed the ophthalmologist analyses and contributed to manuscript drafting and Cuevas Covarrubias SA was responsible for the revision of the manuscript for final edition; all authors read and approved the final manuscript.
Supported by PAEP , 2018 and PAPIIT IN219419, DGAPA, Universidad Nacional Autónoma de México, No. IN219419.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict 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: Sergio A Cuevas-Covarrubias, PhD, Doctor, Professor, Genetica, Hospital General de México, Dr Balmis 148, Cuauhtémoc 06720, México. sercuevas@yahoo.com
Received: July 13, 2020
Peer-review started: July 13, 2020
First decision: August 8, 2020
Revised: September 8, 2020
Accepted: September 18, 2020
Article in press: September 18, 2020
Published online: November 6, 2020
Peer-review started: July 13, 2020
First decision: August 8, 2020
Revised: September 8, 2020
Accepted: September 18, 2020
Article in press: September 18, 2020
Published online: November 6, 2020
Core Tip
Core Tip: We report a case diagnosed with submicroscopic 11p13 deletion. The main clinical characteristics and elongator acetyltransferase complex subunit 4 gene deletion, and treatments were assessed and a review of the related literature was performed. Very important, this is the second case of deletion of the elongator acetyltransferase complex subunit 4 gene without aniridia.