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Case Reports
. 1976 Jun;19(2):111.

[The r(22) syndrome, Apropos of 4 new cases]

[Article in French]
M O Rethore, B Noël, J Couturier, M Prieur, J Lafourcade, J Lejeune
  • PMID: 822770
Case Reports

[The r(22) syndrome, Apropos of 4 new cases]

[Article in French]
M O Rethore et al. Ann Genet. 1976 Jun.

Abstract

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.

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