Ring chromosome 14. II. A case report of r (14) mosaicism. The r (14) phenotype
Rethoré, M.O.; Caille, B.; Huet de Barochez, Y.; de Blois, M.C.; Ravel, A.; Lejeune, J.
Annales de Genetique 27(2): 91-95
1984
ISSN/ISBN: 0003-3995 PMID: 6331796 Document Number: 224062
Observation of a patient with r(14) mosaicism together along with 18 previously published observations define the syndrome as follows: mental deficiency, seizures, microcephaly (usually), and facial dysmorphism showing a narrow, elongated face, short palpebral fissures, a flat nasal bridge, and retrognathia. A retinal dystrophia which may be specific of the syndrome consists of a hyperpigmentation and, in three patients, yellow-white spots of the macula. The brain shows mild dilation of the lateral ventricles.