Segregation analysis of a translocation (16;21)(p11;q22) in a large pedigree
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 28 (1) , 36-41
- https://doi.org/10.1111/j.1399-0004.1985.tb01215.x
Abstract
A large family with an inherited reciprocal translocation (16;21) is described. An unbalanced karyotype due to adjacent-1 segregation was documented in 6 cases, whereas 25 children dying within the 1st yr of life and 4 individuals dying at later ages probably had the same abnormality. Therefore minimal and maximal risk estimates were calculated to be 6.0% and 26.5% for female, respectively, 4.8% and 33.3% for male translocation heterozygotes. Among the karyotyped phenotypically normal offspring of male as well as female carriers the ratio of normal children to balanced carriers was not different from 1:1.Keywords
This publication has 7 references indexed in Scilit:
- A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnosesPrenatal Diagnosis, 1984
- Segregation analysis in reciprocal translocation carriersAmerican Journal of Medical Genetics, 1984
- The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 familiesHuman Genetics, 1983
- The 11q;22q translocation: A European collaborative analysis of 43 casesHuman Genetics, 1980
- Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.Journal of Medical Genetics, 1979
- Five familial cases with a trisomy 16p syndrome due to translocationClinical Genetics, 1979
- Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.Journal of Medical Genetics, 1975