Down-Klinefelter syndrome (48,XXY,+21) in a Child with Congenital Heart Disease: Case Report and Literature Review

• Published in: Internal Medicine Vol. 51; no. 11; pp. 1371 - 1374
• Main Authors: Shen, Zheng, Zou, Chao Chun, Shang, Shi Qiang, Jiang, Ke Wen
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 01.01.2012
• Subjects: 48,XXY,+21; congenital heart disease; Down Syndrome - complications; Down Syndrome - diagnosis; Down Syndrome - genetics; Down-Klinefelter syndrome; Echocardiography; Facies; Heart Defects, Congenital - complications; Heart Defects, Congenital - diagnosis; Heart Defects, Congenital - genetics; Humans; Infant; Karyotyping; Klinefelter Syndrome - complications; Klinefelter Syndrome - diagnosis; Klinefelter Syndrome - genetics; Male; Phenotype
• ISSN: 0918-2918; 1349-7235; 1349-7235
• DOI: 10.2169/internalmedicine.51.7097

Congenital heart disease (CHD) is extremely rarely reported in 48, XYY, +21 karyotype. Herein, we reported one case of 48,XYY,+21 karyotype with CHD and reviewed the available literature. The phenotypic characteristics of the 4-month-old child showed the presence of features typical of mongoloid slant. X-ray detection showed the form of heart was corpulent and the bilateral mediastinum was broad. Doppler echocardiogram detection showed atrial septal and ventricular septal defects with patent ductus arteriosus, pulmonary hypertension and mild tricuspid regurgitation. Including this case, 63 cases of 48, XYY, +21 chromosome pattern have been reported. However, only 9 cases have CHD.