Double trisomy 48,XXX,+18 with multiple dysmorphic features
Zi-Yan Jiang1, Xiao-Hui Wu, Chao-Chun Zou
1Department of Pediatrics, Children's Hospital, Zhejiang University School of Medicine and the Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, Hangzhou, China.
Insights
Double trisomy (48,XXX,+18) is a rare chromosomal abnormality causing congenital issues. Early karyotyping is crucial for infants with trisomy 18-like features, particularly ear and reproductive anomalies.
Area of Science:
- Genetics
- Medical Genetics
- Human Genetics
Background:
- Chromosomal abnormalities are frequent causes of congenital anomalies, developmental disorders, and intellectual disability.
- Double trisomy 48,XXX,+18 is an exceptionally rare chromosomal condition.
Observation:
- A neonate presented with poor response and multiple dysmorphic features including SGA, flat nasal bridge, widely-spaced eyes, left thumb deformities, flat facial profile, raised sternum, VSD, enlarged third lateral brain ventricle, and small liver.
- This case expands the known spectrum of malformations associated with 48,XXX,+18.
Findings:
- A literature review of 16 fetuses/infants with 48,XXX,+18 was conducted.
- The current case adds to the phenotypic variability of this rare trisomy.
Implications:
- In cases with clinical presentations resembling trisomy 18, especially with ear or reproductive malformations, consider double trisomy (48,XXX,+18).
- Karyotyping is recommended for accurate diagnosis of this rare condition.
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.
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