de Blois M C, Caille B, Rethoré M O, Dufier J L, Lejeune J
Centre de Recherches en Génétique Humaine, Institut de Progénèse, Paris, France.
Ann Genet. 1990;33(3):155-8.
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.
