Cytogenetic and Genome Research

Novel Insights from Clinical Practice

Gökoğlu M.a,c· Yürür Kutlay N.a· Altıner Ş.a,b

Author affiliations

aDepartment of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey
bDepartment of Medical Genetics, Trabzon Kanuni Training and Research Hospital, Trabzon, Turkey
cGenetic Diseases Evaluation Center, Necip Fazıl City Hospital, Kahramanmaraş, Turkey

Cytogenet Genome Res 2022;162:1–9

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Article / Publication Details

First-Page Preview

Received: May 26, 2022
Accepted: September 29, 2022
Published online: March 02, 2023
Issue release date:

Number of Print Pages: 9
Number of Figures: 6
Number of Tables: 2

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: https://www.karger.com/CGR

Abstract

Complex chromosomal rearrangements (CCRs) have been described as alterations between two or more chromosomes with at least 3 breakpoints. CCRs can cause copy number variations (CNVs) resulting in developmental disorders, multiple congenital anomalies, and recurrent miscarriages. Developmental disorders are an important health problem affecting 1–3% of children. The underlying etiology can be explained by CNV analysis in 10–20% of children who have unexplained intellectual disability, developmental delay, and congenital anomalies. Here we report two siblings who were referred to us with intellectual disability, neurodevelopmental delay, happy demeanor, and craniofacial dysmorphism due to chromosome 2q22.1q24.1 duplication. Segregation analysis showed that the duplication originated from meiotic segregation of a paternal translocation between chromosomes 2 and 4 with chromosome 21q insertion. Considering that infertility is seen in many male individuals with CCRs, it is remarkable that the father does not have any fertility problems. Gain of chromosome 2q22.1q24.1 was responsible for the phenotype due to its size and presence of a gene with a probability of being triplosensitive. We corroborate the assumption that the major gene responsible for the phenotype in the 2q23.1 region is methyl-CpG-binding domain 5, MBD5.

© 2023 S. Karger AG, Basel

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First-Page Preview

Received: May 26, 2022
Accepted: September 29, 2022
Published online: March 02, 2023
Issue release date:

Number of Print Pages: 9
Number of Figures: 6
Number of Tables: 2

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: https://www.karger.com/CGR

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