[Ring chromosome 14. II. A case report of r(14) mosaicism. The r(14) phenotype].
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D004827:Epilepsy / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics; D009030:Mosaicism; D010641:Phenotype; D010859:Pigmentation Disorders / Q000235:genetics; D012164:Retinal Diseases / Q000235:genetics; D013577:Syndrome; D014057:Tomography, X-Ray Computed
Chromosome 14 en anneau. II. Une observation de r(14) en mosaïque. Le phénotype r(14).