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  • Title: [Mosaic trisomy 14 due to an iso dicentric chromosome (author's transl)].
    Author: Turleau C, de Grouchy J, Cornu A, Turquet M, Millet G.
    Journal: Ann Genet; 1980; 23(4):238-40. PubMed ID: 6971604.
    Abstract:
    Mosaic trisomy 14 due to a de novo formation of an iso dicentric chromosome 14 was observed in a male negro infant who died at the age of one week. Together with three previous reports in the literature of mosaic trisomy 14, this observation allows the delineation of a syndrome characterized by intrauterine growth retardation ; craniofacial dysmorphism with frontal bossing ; hypertelorism ; microretrognathia, small, lowset, abnormally folded ears ; a translucent film over the eyes ; and congenital heart disease.
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