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1 results

  • 11 - Genetic counseling

  • Edited by Kieran C. Murphy, Education and Research Centre, Royal College of Surgeons of Ireland, Peter J. Scambler, Institute of Child Health, University College London
  • Book:
    Velo-Cardio-Facial Syndrome
    Published online:
    11 August 2009
    Print publication:
    30 June 2005, pp 200-218

  • Summary

    The 22q11.2 deletion has been identified in the majority of patients with DiGeorge syndrome, velo-cardio-facial syndrome (VCFS) and conotruncal anomaly face syndrome and in some patients with autosomal dominant Opitz G/BBB syndrome and Cayler cardiofacial syndrome. In looking at the inheritance of the 22q11.2 deletion, it is clear that the majority of cases occur as a de novo event. This is reportedly due to the inherent structure of the deletion. Specifically, a number of low copy repeats make this region especially susceptible to rearrangements. Genetic counseling for an adult with the 22q11.2 deletion is often quite difficult due, in part, to the wide inter- and intrafamilial variability of the deletion. Genetic counseling for the general population is more complicated and should be considered on a case-by-case basis when anatomic abnormalities are seen on fetal ultrasonography, or following significant findings from a careful family history.