16
Mar
Chromosome 7p12.3 microduplication
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Chromosome 7p12.3 microduplication detected in an infant. The clinical consequences of a duplication in the 7p12 area are virtually unknown. The authors report on an 11-month old girl with an association of anal atresia, perineal hamartoma (which appeared as a polyp-like protrusion in the perineum) and facial dysmorphism. The patient... Read More