Duplication 12q

Trisomy of the long arm of chromosome 12 is associated with multiple craniofacial features including asymmetry with dolico-or brachycephaly, a narrow nasal bridge with anteverted nares, short upper lip, macrostomia, downturned corners of the mouth, scrotal tongue, and low-set and/or dysplastic ears. Skeletal anomalies may include proximal thumbs, brachymetatary and brachycarpy, and hip dislocations. Ophthalmic features include epicanthus, hypertelorism, upward slanting and/or narrow palpebral fissures, and heavy eyebrows.73,220

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