[The r(22) syndrome, Apropos of 4 new cases].
Four patients with a ring derived from chromosome n 22 - r(22)-are reported. The clinical syndrome is described, based on the description of these patients and ten others already reported in the litterature. The "doe's eye" anomaly appears to be the only morphological symptom of the disease. Mental retardation is pronounced and associated with disturbed equilibrium.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002904:Chromosomes, Human, 21-22 and Y; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics*; D013577:Syndrome
Le syndrome r (22). A propos de 4 nouvelles observations