[Ring chromosome 14. I. A case report on homogeneous r(14)].
A ring chromosome derived from a no. 14 was observed, without mosaicism, in a 2-month-old male with craniofacial dysmorphism, retarded psychomotor development, seizures and retinal anomalies. Serum immunoglobulins concentrations were normal.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D005147:Facial Bones / Q000002:abnormalities; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics; D012164:Retinal Diseases / Q000235:genetics; D012640:Seizures / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014057:Tomography, X-Ray Computed
D007136:Immunoglobulins
Chromosome 14 en anneau. I. Une observation de r(14) homogène.