Double trisomy 48, XXX,+18 with multiple dysmorphic features
Double trisomy 48, XXX,+18 with multiple dysmorphic features
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双三体 48、XXX、18 具有多种畸形特征
DOI：
10.1007/s12519-015-0005-7
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发表时间：
2015-02-01
影响因子：
8.7
通讯作者：
Zou, Chao-Chun
中科院分区：
文献类型：
--
作者：
Jiang, Zi-Yan;Wu, Xiao-Hui;Zou, Chao-Chun
背景：染色体异常是先天性异常、精神疾病和智力低下的常见原因。然而，双三体48，XXX，+18是一种罕见的染色体异常。方法：病例报告和文献复习。结果：1例7小时大的女婴因出生后反应不良来我单位就诊。她有多种畸形特征，包括胎龄婴儿小，鼻梁扁平，眼睛间距大，左拇指畸形，面部轮廓扁平，胸骨凸起，室间隔缺损，第三侧脑室增大，肝脏小。本病例扩展了与双三体48，XXX，+18相关的畸形报道的范围。并对16例48、XXX、+18的胎儿或婴儿的文献进行了综述。结论：这些数据提示，对于临床特征与18三体相似的患者，特别是伴有耳部异常和/或生殖畸形的患者，尽管是罕见病，但仍应考虑双三体（48、XXX、+18），并进行核型分析。
Background: Chromosomal abnormality is a common cause of congenital anomalies, psychiatric disorders, and mental retardation. However, the double trisomy 48, XXX,+18 is a rare chromosome abnormality.Methods: Case report and literature review.Results: A 7-hour-old girl presented to our unit because of poor response after birth. She 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 liver. This case expands the spectrum of malformations reported in association with the double trisomy 48, XXX,+18. The literature on 16 fetuses or infants with the 48, XXX,+18 were also reviewed.Conclusion: 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.