MR Imaging Findings in Xp21.2 Duplication Syndrome

Area of Science:

• Genetics
• Neuroimaging
• Developmental Pediatrics

Background:

• Xp21.2 duplication syndrome is a rare genetic disorder with unknown prevalence.
• Chromosomal microarray is a primary diagnostic tool for childhood developmental delay, identifying more copy number variations.
• Imaging findings for Xp21.2 duplication syndrome have not been previously reported.

Observation:

• A 33-month-old male presented with developmental delay.
• Diagnostic work-up revealed an Xp21.2 duplication.
• The duplication encompassed the IL1RAPL1 gene and was associated with multiple midline brain malformations.

Findings:

• This case represents the first reported imaging findings of Xp21.2 duplication syndrome.
• The identified Xp21.2 duplication included the IL1RAPL1 gene.
• Associated findings included multiple midline brain malformations.

Implications:

• This case expands the understanding of Xp21.2 duplication syndrome's phenotypic spectrum.
• The findings highlight the importance of neuroimaging in evaluating developmental delay associated with genetic duplications.
• Further research is needed to establish the prevalence and clinical significance of Xp21.2 duplications.