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15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q
American Journal of Medical Genetics, 01/12/09
Tatton-Brown K et al. - Renal anomalies included renal agenesis, horseshoe kidney, and hydronephrosis. Authors provide further support for a distinct 15q overgrowth syndrome caused by either trisomy or tetrasomy resulting in increased dosage of distal 15q. Authors propose that renal anomalies and a distinctive facial appearance be considered major features of this condition.
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