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Double trisomy 48,XXX,+18 with multiple dysmorphic features
Zi-Yan Jiang, Xiao-Hui Wu, Chao-Chun Zou
Hangzhou, China
Author Affiliations: Department of Pediatrics, Children's Hospital, Zhejiang University School of Medicine and the Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education (Jiang ZY, Wu XH, Zou CC)
Corresponding Author: Chao-Chun Zou, MD, Children's Hospital, Zhejiang University School of Medicine, 57 Zhugan Xiang, Hangzhou 310003, China (Tel: +86-571-88873011; Fax: +86-571-87033296; Email: zou108cc@yahoo.com)
doi: 10.1007/s12519-015-0005-7
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.
World J Pediatr 2015;11(1):83-88
Key words: 48,XXX,+18;
chromosome abnormality;
double trisomy;
multiple dysmorphic features
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