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Double trisomy 48,XXX,+ 18 in a newborn
American Journal of Medical Genetics
|January 1, 1981
Summary
This study details the sixth case of double trisomy X and 18 (48,XXX,+18). The infant survived over 275 days with unique anomalies predominantly affecting the right side.
Area of Science:
- Genetics
- Human Chromosome Abnormalities
- Pediatric Medicine
Background:
- Trisomy X (47,XXX) and Trisomy 18 (47,+18) are known chromosomal disorders.
- Double trisomy X and 18 (48,XXX,+18) is an extremely rare condition.
Observation:
- A case of a live infant with 48,XXX,+18 is presented.
- The infant presented with specific anomalies, notably right-sided kidney and hand involvement.
- Two X chromosomes were identified as late replicating.
Findings:
- The infant survived beyond 275 days, lacking overlapping fingers, simian creases, and structural heart disease.
- Review of previous cases revealed a predilection for right-sided anomalies in kidneys, hands, and ears.
Implications:
- This case contributes to understanding the phenotypic variability of 48,XXX,+18.
- Further research is needed to elucidate the genetic mechanisms and clinical spectrum of this rare condition.