Kaya I. Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array: A case report. World J Clin Cases 2024; 12(8): 1517-1522 [PMID: 38576798 DOI: 10.12998/wjcc.v12.i8.1517]
Corresponding Author of This Article
Işın Kaya, MD, Doctor, Medical Genetics, Bakırçay University Çiğli Education ve Training Hospital, Yeni Mahalle, 8780/1. Street. No. 18 Çiğli, İzmir 35620, Turkey. isintkaya@yahoo.com
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
World J Clin Cases. Mar 16, 2024; 12(8): 1517-1522 Published online Mar 16, 2024. doi: 10.12998/wjcc.v12.i8.1517
Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array: A case report
Işın Kaya
Işın Kaya, Medical Genetics, Bakırçay University Çiğli Education ve Training Hospital, İzmir 35620, Turkey
Author contributions: Kaya I concepted and designed the study; Kaya I collected and analyzed the data, and drafted the manuscript.
Informed consent statement: Informed consent was obtained from the patient’s family.
Conflict-of-interest statement: There is no conflict of interest.
CARE Checklist (2016) statement: The author has 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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Işın Kaya, MD, Doctor, Medical Genetics, Bakırçay University Çiğli Education ve Training Hospital, Yeni Mahalle, 8780/1. Street. No. 18 Çiğli, İzmir 35620, Turkey. isintkaya@yahoo.com
Received: December 13, 2023 Peer-review started: December 13, 2023 First decision: December 21, 2023 Revised: January 3, 2024 Accepted: February 25, 2024 Article in press: February 25, 2024 Published online: March 16, 2024 Processing time: 89 Days and 10.6 Hours
Abstract
BACKGROUND
Nonallelic homologous recombination (NAHR) of segmental duplications or low copy repeats (LCRs) result in DNA gain/loss and play an important role in the origin of genomic disorders.
CASE SUMMARY
A 3-year- old boy was referred for genetic analysis. Comparative genomic hybridization array analysis revealed a loss of 3776 kb in the 4p16.3 chromosomal region and a gain of 3201 kb in the 11p15.5p15.4 chromosomal region.
CONCLUSION
Genomic imbalances caused by NAHR in LCRs result in deletion and duplication syndromes.
Core Tip: Chromosome analysis of a young child with developmental delay, cleft palate, hearing loss, and mental retardation indicated 46, XY. Further genetic analysis with comparative genomic hybridization array revealed a deletion in the short arm of chromosome 4 and a gain in the short arm of chromosome 11. The patient’s phenotypic findings were associated with the genes affected by the genomic loss and gain.
