Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome

We describe an uncommon association of deletion 22q11 in a patient with Kli nefelter syndrome. Even though congenital heart defects (CHD) are not assoc iated with Klinefelter syndrome, further investigation of this patient with patent ductus arteriosus showed a microdeletion of chromosome 22q11.2. Whi le this finding may be coincidental, it is important to further evaluate pa tients when the clinical features are suggestive of a secondary abnormality . (C) 2000 Editions scientifiques et medicales Elsevier SAS.