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

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...

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Bibliographic Details
Published inPrenatal diagnosis Vol. 16; no. 6; pp. 554 - 558
Main Authors TUERLINGS, J. H. A. M., OOSTERWIJK, J. C., TEN KATE, L. P.
Format Journal Article
LanguageEnglish
Published Chichester, UK John Wiley & Sons, Ltd 01.06.1996
Wiley
Subjects
Adult
Biological and medical sciences
Down syndrome
Down Syndrome - genetics
Female
Genetic Counseling
genetic counselling
Genotype
Gynecology. Andrology. Obstetrics
Humans
Karyotyping
Male
Management. Prenatal diagnosis
Medical sciences
Pedigree
Pregnancy. Fetus. Placenta
Risk
risk estimation
Chromosomal aberration
Prenatal
Family story
Trisomy
Genetic counseling
Estimation
Aneuploidy
Fetus
Risk
Diagnosis
Down syndrome
Karyotype
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Summary: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.
Bibliography:ark:/67375/WNG-4SN8ZJ3T-4
istex:2EAEE033BAD169E07EA287A1EF31377DC5E47901
ArticleID:PD896
ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
content type line 23
ObjectType-Article-1
ObjectType-Feature-2
ISSN:0197-3851
1097-0223
DOI:10.1002/(SICI)1097-0223(199606)16:6<554::AID-PD896>3.0.CO;2-I