Duplication 12p

Partial trisomy of the short arm of chromosome 12 causes severe mental retardation, with characteristic facial features including midfacial hypoplasia, long philtrum, puffy cheeks with a thick, everted lower lip, a large tongue, and small ears; turribrachy-cephaly may be evident. Additional features include broad, short hands with clinodactyly, micrognathia, diastasis recti, and malformations of the heart and urinary tract. Ophthalmic features include hypertelorism, epicanthus, and downward slanting of the palpebral fissures.14,152,277,281,289

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