Down syndrome in the family: What to do when the karyotype of the proband is not available

JHAM Tuerlings*, JC Oosterwijk, LP TenKate

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


There is as yet no clear protocol available for counselling a person who has one or more relatives with Down syndrome of unknown genotype. Counsellors use different approaches based on their own experience. We present a protocol for practical use which can be helpful in making a decision in clinical situations such as those mentioned above. In this protocol we have used a simple formula to calculate an approximate risk for the counsellee of having a child with Down Syndrome due to an as yet unrecognized familial translocation.

Original languageEnglish
Pages (from-to)554-558
Number of pages5
JournalPrenatal Diagnosis
Issue number6
Publication statusPublished - Jun-1996


  • Down syndrome
  • risk estimation
  • genetic counselling

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