Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences
- 1 November 1987
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 77 (3) , 236-240
- https://doi.org/10.1007/bf00284476
Abstract
The parental origin of five X isochromosomes were determined using 11 DnA markers. The isochromosome was derived from a maternal X chromosome in three cases and from a paternal X chromosome in two. Unexpected heterozygosity was detected for the proximal Xp region in one individual in whom the i(Xq) chromosome was paternally derived. This was confirmed by in situ hybridisation. A mode of formation of isochromosomes by breakage and reunion between the sister chromatids of the arms of an X chromosome is proposed to account for this. Sister chromatid breakage and reunion can be considered as a significant mechanism for the origin of i(Xq) chromosomes.This publication has 13 references indexed in Scilit:
- Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14American Journal of Medical Genetics, 1987
- Morphology alone does not make an isochromosomeHuman Genetics, 1986
- Dicentric chromosomes and the inactivation of the centromereHuman Genetics, 1986
- Localization of the human haptoglobin genes distal to the fragile site at 16q22 using in situ hybridizationCytogenetic and Genome Research, 1986
- A male with a monocentric Yq isochromosome and presence of a Yp-specific DNA sequenceHuman Genetics, 1985
- Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques (Part 1 of 5)Cytogenetic and Genome Research, 1985
- How do human isochromosomes arise?Cancer Genetics and Cytogenetics, 1982
- Number of C-bands of human isochromosome Xqi and relation to 45,X mosaicismJournal of Medical Genetics, 1978
- Chromosome Aberrations Induced by Ionizing RadiationsPublished by Elsevier ,1962
- The origin of iso-chromosomesJournal of Genetics, 1940