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KMID : 0390619950030020209
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Journal of Cardiovascular Ultrasound
1995 Volume.3 No. 2 p.209 ~ p.0
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A Case of Turner's Syndrome(46, XXqi) Associated with large Atrial Septal Difect and Mitral Valve Prolapse
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백종철
김완/강헌석/이숭/명재일/길광채/박주형/조정관/박종춘
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Abstract
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We deseribe a 23-year-old female of 46, Xxqi Turner's syndrome associated with large atrial sepatal defect(secundum type) and mitral valve prolapse who was admitted due to amenorrhea, sexual infantilism and exertional dyspnea. This patient had
only
one
spontaneous menstrual period at the age of 15 and had a short stature without webbed neck. Chromosomal aberrations cause primarily structural defects of cardiovascular system, and a variety of structural aberrations involving the X chromosome can
cause
partial or complete Turner's syndrome. In Turner's syndrome, bicuspid aortic valve or coarctaton of aorta is frequently combined, also aortic root dilatation, partial anomalous venous drainage, hypoplastic left heart and ventricular septal
defects,
atrial septal defect has been reported. However, this patient had not abnormalities in aortic valve and whole aorta. Atrial septal defect simultaneously with mitral valve prolapse in 46 Xxqi Turner's syndrome have not been reported in Korea.
We report this case with a brief review of the literature.
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KEYWORD
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