Unbalanced karyotype with normal phenotype in a family with translocation (8;13) (p21;q22)
- 1 May 1985
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 27 (5) , 487-495
- https://doi.org/10.1111/j.1399-0004.1985.tb00237.x
Abstract
A family is described with translocation (8;13) (p21;q22), in which both unbalanced products of adjacent-1 segregation occurred. Two numbers of the family have partial trisomy 8p with partial monosomy 13q; 2 others have partial monosomy 8p with partial trisomy 13q. The latter are both phenotypically normal, which is a highly unusual observation. One of these is a carrier of a de novo balanced translocation between chromosomes 2 and 19. The risk for unbalanced progeny is discussed.Keywords
This publication has 16 references indexed in Scilit:
- Two cases of an abnormal short arm of chromosome 8 (8p+) associated with mental retardationClinical Genetics, 2008
- Clinical delineation of proximal and distal partial 13q trisomyClinical Genetics, 1984
- Clinical, enzyme, and cytogenetic investigations in three new cases of trisomy 8pHuman Genetics, 1980
- Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.Journal of Medical Genetics, 1979
- The 8p- syndromeHuman Genetics, 1979
- Deletion long arm 13Human Genetics, 1977
- Small structural changes of chromosome 8Human Genetics, 1977
- Partial deletion of the long arm of chromosome No. 13Human Genetics, 1977
- New chromosomal malformation syndromesEuropean Journal of Nuclear Medicine and Molecular Imaging, 1977
- A new chromosome deletion syndrome. Report of a patient with a 46, XY,8p‐ chromosome constitutionClinical Genetics, 1976