TY - JOUR
T1 - Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome
AU - Velagaleti, Gopalrao V.N.
AU - Kumar, Anil
AU - Lockhart, Lillian H.
AU - Matalon, Reuben
PY - 2000
Y1 - 2000
N2 - 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. (C) 2000 Editions scientifiques et medicales Elsevier SAS.
AB - 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. (C) 2000 Editions scientifiques et medicales Elsevier SAS.
KW - Deletion 22q11
KW - Klinefelter syndrome
KW - Patent ductus arteriosus
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U2 - 10.1016/S0003-3995(00)01013-3
DO - 10.1016/S0003-3995(00)01013-3
M3 - Article
C2 - 10998453
AN - SCOPUS:0033798430
SN - 0003-3995
VL - 43
SP - 105
EP - 107
JO - Annales de Genetique
JF - Annales de Genetique
IS - 2
ER -