A family with three independent autosomal translocations associated with 7q32----7qter syndrome.
Open Access
- 1 February 1985
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 22 (1) , 59-63
- https://doi.org/10.1136/jmg.22.1.59
Abstract
Two persons within the same family were discovered to be trisomic for the segment 7qter. However, several features differed from those described in other patients with this syndrome, for example, normal birth weight and neck size, cleft palate, and beaked nose. In addition to the phenotypic variation, there were three independently segregating autosomal translocations in the pedigree: t(1;7)(q43;q32), t(1;6) (p22.3;q14.1), and t(3;10)(q26.1;p11.21). This is a finding that, to our knowledge, has not been previously reported.This publication has 6 references indexed in Scilit:
- Homozygous deficiency of C4 in a child with a lupus erythematosus syndromeClinical Genetics, 1982
- A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterilityJournal of Medical Genetics, 1982
- Two balanced translocations in three generations of a pedigree: t(7;10) (q11;q22) and t(14;21) (14qter to cen to 21qter)1.Journal of Medical Genetics, 1979
- Partial trisomy for the long arm of chromosome 7 due to familial balanced translocationHuman Genetics, 1979
- [Partial trisomies of the long arm of 7 chromosome].1974
- Chromosome survey of a hospital for the mentally subnormal Part 2: Autosome abnormalitiesClinical Genetics, 1972