Double trisomy 48,XXX,+18 with multiple dysmorphic features

作     者：Zi-Yan Jiang Xiao-Hui Wu Chao-Chun Zou 

作者机构：Department of Pediatrics Children's Hospital Zhejiang University School of Medicine and the Key Laboratory of Reproductive Genetics(Zhejiang University) Ministry of Education 

出 版 物：《World Journal of Pediatrics》 (世界儿科杂志（英文版）)

年 卷 期：2015年第11卷第1期

页      面：83-88页

核心收录：

学科分类：0401[教育学-教育学] 04[教育学] 

基　　金：supported by Zhejiang Provincial Natural Science Foundation of China(LR13H090002) the National Natural Science Foundation of China(81170787 and 81371215) 

主　　题：48,XXX,+18 chromosome abnormality double trisomy multiple dysmorphic features 

摘      要：Background:Chromosomal abnormality is a common cause of congenital anomalies,psychiatric disorders,and mental ***,the double trisomy 48,XXX,+18 is a rare chromosome ***:Case report and literature ***:A 7-hour-old girl presented to our unit because of poor response after *** presented with multiple dysmorphic features,including small for gestational age infant,flat nasal bridge,widely-spaced eyes,the left thumb deformities,flat facial profile,raised sternum,ventricular septal defect,the third lateral brain ventricle enlargement,and small *** case expands the spectrum of malformations reported in association with the double trisomy 48,XXX,+*** literature on 16 fetuses or infants with the 48,XXX,+18 were also ***:These data suggested that in patients with clinical features similar to trisomy 18,especially with anomalies of the ears and/or reproductive malformations,double trisomy(48,XXX,+18)should be considered and karyotyping should be performed although it is a rare disease.