Down-Klinefelter syndrome (48,XXY,+21) in a child with congenital heart disease: case report and literature review.
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.
Department of Pediatrics, the Children's Hospital of Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Diseases, China.
Zheng
Z
Shen
Chao Chun
CC
Zou
Shi Qiang
SQ
Shang
Ke Wen
KW
Jiang
D004314:Down Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D004452:Echocardiography; D019066:Facies; D006330:Heart Defects, Congenital / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010641:Phenotype