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Edwards
Area of Science:
- Genetics
- Pediatrics
- Pathology
Background:
- Edwards' syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra copy of chromosome 18.
- It is a severe condition associated with multiple congenital anomalies and a high mortality rate.
Abstract:
Two cases of Edwards' syndrome were observed. One occurred in a girl aged 6 months, the other in a male neonate. The two children showed a highly characteristic appearance of both the face and the extremities, so that it arouse suspicion of 18-chromosomy. The latter was confirmed by a postmortem cytogenetic examination. The syndrome also includes malformations of inner organs and microscopical architectural changes of organs, which occurred in both the cases described, but different in type.