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Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome
G V Velagaleti1, A Kumar, L H Lockhart
1Division of Genetics, Department of Pediatrics, University of Texas Medical Branch, 301 University Boulevard, Galveston, TX 77551, USA. govelaga@utmb.edu
Abstract:
We describe an uncommon association of deletion 22q11 in a patient with Klinefelter syndrome. Even though congenital heart defects (CHD) are not associated with Klinefelter syndrome, further investigation of this patient with patent ductus arteriosus showed a microdeletion of chromosome 22q11.2. While this finding may be coincidental, it is important to further evaluate patients when the clinical features are suggestive of a secondary abnormality.
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