Department of Pediatrics, Children's Hospital, Zhejiang University School of Medicine and the Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, Hangzhou, China.
World J Pediatr. 2015 Feb;11(1):83-8. doi: 10.1007/s12519-015-0005-7. Epub 2015 Jan 28.
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.
Case report and literature review.
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.
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.
染色体异常是先天性畸形、精神障碍和智力迟钝的常见原因。然而，双倍三体 48,XXX,+18 是一种罕见的染色体异常。
病例报告和文献回顾。
一名 7 小时大的女婴因出生后反应不佳而到我院就诊。她表现出多种畸形特征，包括小于胎龄儿、鼻梁平坦、眼睛间距宽、左手拇指畸形、扁平的面部轮廓、胸骨高、室间隔缺损、第三脑室侧扩大、肝脏较小。该病例扩展了与双倍三体 48,XXX,+18 相关的畸形谱。还对 16 例伴有 48,XXX,+18 的胎儿或婴儿的文献进行了回顾。
这些数据表明，对于具有类似于三体 18 临床特征的患者，尤其是具有耳部和/或生殖畸形的患者，即使这种疾病很少见，也应考虑双倍三体（48,XXX,+18）并进行核型分析。
