Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome.
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.
Velagaleti
G V
GV
Division of Genetics, Department of Pediatrics, University of Texas Medical Branch, 301 University Boulevard, Galveston, TX 77551, USA. govelaga@utmb.edu
Kumar
A
A
Lockhart
L H
LH
Matalon
R
R
D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004374:Ductus Arteriosus, Patent / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017403:In Situ Hybridization; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000150:complications / Q000235:genetics*; D008297:Male