ICF SYNDROME (IMMUNODEFICIENCY, CENTROMERIC INSTABILITY AND FACIAL ANOMALIES) - INVESTIGATION OF HETEROCHROMATIN ABNORMALITIES AND REVIEW OF CLINICAL OUTCOME

A further patient with the ICF syndrome (immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9 and 16 and facial ano malies) is described. This case is the second to be reported with cons anguinity of the parents. This lends support to the theory of autosoma l recessive inheritance. The features of the 15 published cases are re viewed. The clinical and cytogenetic characteristics of the syndrome a re discussed, and new evidence provided as to the role of centromeres and centric heterochromatin in the production of chromosome aberration s. Correspondence with other authors has made possible a review of the clinical outcome in this condition.