Trisomy 18 mosaicism in an adult with normal intelligence.

G. Kohn*, M. Shohat

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


A healthy 30-year-old woman was discovered unexpectedly to have trisomy 18/normal chromosome mosaicism. She was ascertained because of a history of three spontaneous abortions following the birth of a healthy son. Trisomy 18 was present in 18% of her lymphocytes and 2% of her cultured skin fibroblasts. She had several minor malformations associated with trisomy 18 syndrome. She is, to our knowledge, the first person who has clinical stigmata of trisomy 18 but has normal intelligence and leads a normal family life.

Original languageEnglish
Pages (from-to)929-931
Number of pages3
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - Apr 1987


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