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Related Experiment Video

Updated: Apr 25, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

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Published on: February 21, 2015

Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlations.

Donatella Milani¹, Caterina Sabatini, Francesca Maria Paola Manzoni

¹Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

Congenital Anomalies

|September 2, 2014

Summary

A rare 5.4 Mb de novo deletion on chromosome 2q was identified in a 13-year-old girl with developmental delays and behavioral issues. This genetic finding offers insights into neurodevelopmental disorders.

Keywords:

2q deletion 2q23q24 array-comparative genomic hybridization behavioral disorders

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Area of Science:

Genetics
Neuroscience
Developmental Biology

Background:

De novo deletions, particularly those affecting specific chromosomal bands, are significant in understanding genetic disorders.
Array-comparative genomic hybridization (aCGH) is a key technology for identifying copy number variations like deletions.
Understanding the genetic underpinnings of developmental delays and behavioral disorders is crucial for diagnosis and treatment.

Observation:

A 13-year-old female presented with minor facial and digital anomalies, mild infantile developmental delay, and behavioral disorders.
Array-comparative genomic hybridization revealed a 5.4 Mb de novo deletion encompassing chromosome bands 2q23.3q24.1.
Clinical comparison with previously reported cases, despite varied molecular characterization, highlighted the unique aspects of this deletion.

Findings:

The identified deletion on chromosome 2q23.3q24.1 is partially overlapping with few previously reported cases.
Analysis focused on genes within the deleted region, considering the patient's neuropsychiatric involvement.
Specific genes like GALNT13, KCNJ3, and NR4A2, known for expression in neuronal cells, were highlighted as potentially involved in neurological development and function.

Implications:

This case expands the understanding of the phenotypic spectrum associated with 2q23.3q24.1 deletions.
Identifying candidate genes within the deleted region can guide future research into the molecular mechanisms of neurodevelopmental disorders.
Further investigation of GALNT13, KCNJ3, and NR4A2 may reveal their roles in neuronal function and associated behavioral phenotypes.