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

✍ Scribed by Olivier Cohen; Christine Cans; Marie-Ange Mermet; Jacques Demongeot; Pierre Jalbert


Book ID
104666148
Publisher
Springer
Year
1994
Tongue
English
Weight
570 KB
Volume
93
Category
Article
ISSN
0340-6717

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✦ Synopsis


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.