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15q24 Duplication: A Case Report of Neurodevelopmental Delay
Agustín Cámara-Domínguez1, Alexandra Margaret Stuart-Aguiar1, Nicte-Há Asunción Fuentes-Canto1
1School of Medicine, Universidad Marista de Mérida, Mérida, Mexico.
Clinical Pediatrics
|November 22, 2024
Summary
A 15q24 duplication (dup15q24) caused neurodevelopmental delay in a young boy. This highlights the diagnostic challenges of chromosomal rearrangements and the need for multidisciplinary care in rare diseases.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Chromosomal rearrangements are structural anomalies impacting gene expression and potentially causing developmental disorders.
- The 15q24 locus is associated with controversial phenotypes in both duplications and deletions, complicating differential diagnoses.
- Neurodevelopmental delay, autism spectrum disorder, and dysmorphic features can be linked to chromosomal aberrations.
Purpose of the Study:
- To present the clinical and molecular characteristics of a pediatric patient with neurodevelopmental delay and a 15q24 duplication.
- To underscore the diagnostic complexities associated with the 15q24 locus.
- To advocate for a multidisciplinary approach in diagnosing rare genetic disorders.
Main Methods:
- Case report of a 2-year-old male child.
- Clinical evaluation including assessment of neurodevelopmental delay.
- Molecular diagnosis confirming a 15q24 duplication (dup15q24).
Main Results:
- The patient was diagnosed with a 15q24 duplication.
- The study highlights the phenotypic variability and diagnostic challenges related to 15q24 rearrangements.
- The case emphasizes the need for comprehensive evaluation in pediatric patients with neurodevelopmental disorders.
Conclusions:
- 15q24 duplications can lead to significant neurodevelopmental challenges.
- A multidisciplinary team approach (genetics, pediatrics, neurology) is crucial for accurate diagnosis and improved patient outcomes.
- Early and accurate diagnosis of rare genetic diseases like dup15q24 is vital for patient and family quality of life.
Keywords:
Gene duplicationautism spectrum disorderchromosome 15qcomparative genomic hybridizationglobal developmental delayintellectual disabilitylanguage development disordersMore Related Videos
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