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Up to: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability · Overgrowth syndrome · Partial duplication of the long arm of chromosome 15
15q overgrowth syndrome
15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.
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Distal tetrasomy 15q 0 trials
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Distal trisomy 15q 0 trials