[The r(14) syndrome. 3 new observations].
Three observations of r(14) are reported. Constant features of r(14) syndrome are the following: moderate but typical craniofacial dysmorphism, seizures and other neurological abnormalities, abnormal retinal pigmentation, and recurrent respiratory infections. The value of gene dosage evaluation for genes mapped to the distal segment of 14q, particularly the Ig heavy chain genes, is emphasized.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D004303:Dosage Compensation, Genetic; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D007223:Infant; D008297:Male; D010859:Pigmentation Disorders / Q000235:genetics; D012164:Retinal Diseases / Q000235:genetics; D012640:Seizures / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D013577:Syndrome
D007143:Immunoglobulin Heavy Chains
Le syndrome r(14). Trois nouvelles observations.