What question did this study set out to answer?

This review aimed to summarize existing cases and provide insights into genetic counseling for 22q11.2 microduplication syndrome.

July 24, 2026GenesOpen Access

Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases

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Review finds diverse clinical outcomes in patients with 22q11.2 microduplication syndrome, indicating a need for improved genetic counseling.

This review aimed to summarize existing cases and provide insights into genetic counseling for 22q11.2 microduplication syndrome.
Analyzed 12 new cases (5 prenatal, 7 postnatal) diagnosed through array-CGH.
Combined with 679 previously reported cases (95 prenatal, 584 postnatal).
Reviewed data on clinical features, genetic findings, methodologies, and outcomes.
Broad phenotypic spectrum observed in combined cases.
Common features include neurodevelopmental disorders and cardiac anomalies.
Over 70% of findings were inherited from parents, indicating variable expressivity and incomplete penetrance.

Bisba et al. (2026) studied this question.

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Review finds diverse clinical outcomes in patients with 22q11.2 microduplication syndrome, indicating a need for improved genetic counseling.