VIABILITY THRESHOLDS FOR PARTIAL TRISOMIES AND MONOSOMIES - A STUDY OF 1,159 VIABLE UNBALANCED RECIPROCAL TRANSLOCATIONS

Authors
COHEN O CANS C MERMET MA DEMONGEOT J JALBERT P
Citation
O. Cohen et al., VIABILITY THRESHOLDS FOR PARTIAL TRISOMIES AND MONOSOMIES - A STUDY OF 1,159 VIABLE UNBALANCED RECIPROCAL TRANSLOCATIONS, Human genetics, 93(2), 1994, pp. 188-194
Citations number
48
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
93
Issue
2
Year of publication
1994
Pages
188 - 194
Database
ISI
SICI code
0340-6717(1994)93:2<188:VTFPTA>2.0.ZU;2-6
Abstract
From a data base of 1,590 independent families with autosomal reciproc al translocations, 1,159 viable unbalances were studied and the length s of their trisomy/monosomy segments measured according to the method proposed by Daniel. About 5% of cases were found not to comply with Da niel viability criteria. The thresholds of viability vary with the mod e of unbalance and with the sex of the carrier. Thus, new viability cr iteria are proposed as a guide for genetic counseling and prenatal dia gnosis.