Edwards Syndrome

Book
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan.
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Excerpt

Edwards syndrome, also called trisomy 18 syndrome, is an autosomal chromosomal disorder due to an extra copy of chromosome 18. Edwards syndrome is one of the autosomal trisomy syndrome, second in frequency only to trisomy 21. Edwards syndrome was first reported by Edwards et al. in 1960, who reported a neonate with multiple congenital malformations and cognitive deficit. Smith et al. confirmed the extra copy of chromosome 18 as an underlying cause for Edwards syndrome.

Publication types

  • Study Guide