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r14 syndrome without major dysmorphism |
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| Authors: | M C de Blois B Caille M O Rethoré J L Dufier J Lejeune |
| Affiliation: | Centre de Recherches en Génétique Humaine, Institut de Progénèse, Paris, France. |
| Abstract: | An 8-year-old boy, mentally retarded and epileptic since the age of six months, was found carrier of ring 14 chromosome. A dystrophy of the eye fundi was observed (whitish puncta of the macula); except for the "almond shaped eyes", there was no obvious dismorphism. |
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