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

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15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems.

C von der Lippe¹, C Rustad, K Heimdal

¹Dep. of Medical Genetics, Oslo University Hospital, Oslo, Norway. Charlotte.Von.Der.Lippe2@oslo-universitetssykehus.no

European Journal of Medical Genetics

|December 29, 2010

Summary

The 15q11.2 microdeletion syndrome, affecting four genes, is confirmed in seven new patients. This genetic condition is linked to learning difficulties and developmental delays, often inherited from mildly affected parents.

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Area of Science:

Genetics
Human Molecular Genetics
Clinical Genetics

Background:

The 15q11.2 microdeletion is increasingly recognized as a distinct genetic syndrome.
Previous studies have described a limited number of patients with this deletion.

Observation:

Seven new patients (ages 9-24) with a 350 kb 15q11.2 deletion involving TUBGCP5, NIPA1, NIPA2, and CYFIP1 genes were identified.
All patients exhibited learning difficulties, developmental delays, and/or behavioral issues.
Distinctive dysmorphic features and congenital malformations were not common in this cohort.

Findings:

The 15q11.2 deletion is associated with a consistent phenotype of neurodevelopmental challenges.
In most cases (5/6), the deletion was inherited from a parent with milder symptoms, suggesting variable expressivity.
This study confirms and refines the clinical features associated with the 15q11.2 microdeletion.

Implications:

These findings contribute to a better understanding of the 15q11.2 microdeletion syndrome.
Further research can improve diagnostic accuracy and genetic counseling for affected families.
This expands the knowledge base for rare genetic disorders affecting neurodevelopment.