Disease Information for Trisomy 13 syndrome: Definition

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  • The presence of an additional (third) chromosome on an otherwise diploid chromosome 13 with variable abnormalities, most characteristic of which are microcephaly, microphthalmia, hypertelorism, cleft lip or palate, polydactyly, and cardiovascular, genitourinary, and neurological abnormalities. It is one of the most frequent causes of perinatal deaths.

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