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DOWN SYNDROME IN THE FAMILY: WHAT TO DO WHEN THE KARYOTYPE OF THE PROBAND IS NOT AVAILABLE
Author(s) -
TUERLINGS J. H. A. M.,
OOSTERWIJK J. C.,
TEN KATE L. P.
Publication year - 1996
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199606)16:6<554::aid-pd896>3.0.co;2-i
Subject(s) - proband , karyotype , protocol (science) , down syndrome , medicine , prenatal diagnosis , genetic counseling , chromosomal translocation , pediatrics , psychology , pregnancy , genetics , psychiatry , pathology , chromosome , biology , mutation , fetus , alternative medicine , gene
Abstract 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.