Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?--Report of two families.

Abstract excerpt

We report on two unrelated families where the probands presented with learning difficulties and a microduplication 22q11.2. In the first family the proband was a 7-year-old boy who was referred because of psychomotor retardation, behavioral problems, large weight and height, and mild dysmorphism. His father and one brother also had mental retardation and behavioral anomalies, and presented the same...

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