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

被引：18
作者：
Shen, Zheng [1 ,2 ]
Zou, Chao Chun [1 ,2 ]
Shang, Shi Qiang [1 ,2 ]
Jiang, Ke Wen [1 ,2 ]
机构：
[1] Zhejiang Univ, Sch Med, Dept Pediat, Childrens Hosp, Hangzhou, Zhejiang, Peoples R China
[2] Zhejiang Key Lab Diag & Therapy Neonatal Dis, Hangzhou, Zhejiang, Peoples R China
来源：
INTERNAL MEDICINE | 2012年 / 51卷 / 11期
关键词：
Down-Klinefelter syndrome; 48; XXY; +21; congenital heart disease; OF-THE-LITERATURE; DOUBLE ANEUPLOIDY; CHROMOSOMES; DEFECTS; TRISOMY; TWINS;
D O I：
10.2169/internalmedicine.51.7097
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：1371 / 1374
页数：4
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