Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array: A case report

doi:10.12998/wjcc.v12.i8.1517

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World Journal of Clinical Cases

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2307-8960

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

Case Report

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).

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.

Keywords: Wolf-Hirschhorn syndrome; Silver-Russell syndrome; Recurrent rearrangements; Case report

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.