Premium
Experiences with risk estimates for carriers of chromosomal reciprocal translocations
Author(s) -
Midro Alina T.,
StengelRutkowski Sabine,
Stene Jon
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03646.x
Subject(s) - chromosomal translocation , offspring , reciprocal , genetics , genetic counseling , obstetrics , medicine , pregnancy , biology , linguistics , philosophy , gene
Midro AT, Stengel‐Rutkowski S, Stene J. Experiences with risk estimates for carriers of chromosomal reciprocal translocations. Clin Genet 1992:41: 113–122. The risk estimates for individual carriers of ten different familial reciprocal translocations detected among 500 couples with reproductive failures are presented. These were established by application of the empirical data analysed by Stengel‐Rutkowski et al. (1988) and the guidelines given in Stene & Stengel‐Rutkowski (1988). Different risks were estimated for unbalanced offspring at birth or at second trimester prenatal diagnosis for abortions, or stillbirths/early deaths. These risk estimates varied considerably from translocation to translocation. Carriers of five translocations had risks for offspring with single‐segment imbalances. The birth risk figures ranged from 0.1% to 13.8%. Carriers of five other translocations had risks for double‐segment imbalances with birth risks ranging from 0% to 3.2%. The estimated risk figures were independent of the method of ascertainment. Among the parents of the index cases we found nine maternal carriers and only one paternal carrier. This presentation illustrates the need for individual risk counselling of each carrier with reciprocal translocation regarding further family planning.