Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations

From a data base of 1,590 independent families with autosomal reciprocal translocations, 1,159 viable unbalances were studied and the lengths of their trisomy/monosomy segments measured according to the method proposed by Daniel. About 5% of cases were found not to comply with Daniel viability crite...

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Bibliographic Details
Published in:Human genetics 1994-02, Vol.93 (2), p.188-194
Main Authors: COHEN, O, CANS, C, MERMET, M.-A, DEMONGEOT, J, JALBERT, P
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome aberrations
Chromosome Aberrations - genetics
Female
Gene Rearrangement
Genetic Counseling
Heterozygote
Humans
Male
Medical genetics
Medical sciences
Models, Genetic
Monosomy - genetics
Translocation, Genetic
Trisomy - genetics
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Summary:From a data base of 1,590 independent families with autosomal reciprocal translocations, 1,159 viable unbalances were studied and the lengths of their trisomy/monosomy segments measured according to the method proposed by Daniel. About 5% of cases were found not to comply with Daniel viability criteria. The thresholds of viability vary with the mode of unbalance and with the sex of the carrier. Thus, new viability criteria are proposed as a guide for genetic counseling and prenatal diagnosis.
ISSN:0340-6717
1432-1203
DOI:10.1007/bf00210608