✦ LIBER ✦

DOWN SYNDROME IN THE FAMILY: WHAT TO DO WHEN THE KARYOTYPE OF THE PROBAND IS NOT AVAILABLE

✍ Scribed by J. H. A. M. TUERLINGS; J. C. OOSTERWIJK; L. P. TEN KATE

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 353 KB
Volume: 16
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199606)16:6<554::aid-pd896>3.0.co;2-i

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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