Transmitting balanced translocation carrier information within families: A follow-up study

L. Suslak, D. M. Price, F. Desposito

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


Approximately 1 of 500 individuals is a carrier of a balanced chromosome translocation. Since many translocations are inherited, many (but not all) relatives of carriers have a need to be informed of their potential carrier status. Presently, no data are available as to what extent individuals identified as balanced carriers inform at-risk relatives of the problem. We interviewed 12 balanced translocation carriers to learn whether such information had been transmitted to relatives. The 12 propositi had 36 surviving sibs and 21 surviving parents. Of the 36 sibs, 32 were informed of their risk. The four sibs not informed were from two families. Only 16 of the 32 informed sibs had subsequent carrier testing. Of the 21 surviving parents, 14 were told by their children of their carrier status; subsequently, three parent couples were tested. This survey provided data showing that individuals do not always disclose genetic risk information to relatives. Therefore, genetic professionals need to determine if they have a duty to transmit such information to at-risk relatives in light of the harm that may occur when information is withheld.

Original languageEnglish (US)
Pages (from-to)227-232
Number of pages6
JournalAmerican journal of medical genetics
Issue number2
StatePublished - 1985

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)


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