The trisomy 18 syndrome with an E/G translocation
Human Genetics
|March 12, 1976
Summary
A rare case of Edwards syndrome in an infant with 46 chromosomes is presented. Analysis revealed a missing G chromosome and an extra chromosome resembling chromosome 16, likely due to a G/18 translocation.
Area of Science:
- Genetics
- Pediatrics
- Medical case reports
Background:
- Edwards syndrome (Trisomy 18) is a genetic disorder typically caused by an extra copy of chromosome 18.
- Chromosomal abnormalities can manifest in various forms, including translocations and partial trisomies/monosomies.
