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Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies

Luc M. Beauchesne, MD, FRCPC^*,*, Carole A. Warnes, MD, MRCP, FACC, Heidi M. Connolly, MD, FACC, Naser M. Ammash, MD, FACC, Martha Grogan, MD, FACC, Syed M. Jalal, PhD and Virginia V. Michels, MD

^* Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Canada
Division of Cardiovascular Diseases and Internal Medicine
Division of Laboratory Genetics
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota

View larger version (75K): [in a new window]   Figure 1 Facial views of two of the patients with 22q11.2 microdeletion illustrating the spectrum of facial dysmorphism. (A) Patient #3 in text. Except for mild upper eyelid changes associated with normal aging, this 47-year-old man does not have typical dysmorphic changes of 22q11.2 microdeletion. (B) Patient #6 in text. This 27-year-old woman has facial features of 22q11.2 microdeletion including a long face, paranasal bossing, and hooded appearance of the upper eyelids with narrow palpebral fissures.