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A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation


Lorda-Sanchez, Isabel; Binkert, Franz; Maechler, Marco; Schinzel, Albert (1991). A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation. American Journal of Human Genetics, 49(5):1034-1040.

Abstract

Fourteen individuals with an i(Xq) or idic(Xq) were studied using RFLP analysis in order to determine both parental origin and extent of heterozygosity of the isochromosome and to search for the presence of short-arm material. In five cases the isochromosome was paternally derived, while nine patients had a maternal i(Xq). The analysis of heterozygosity of the nine maternally derived isochromosomes by using Xq markers showed heterozygosity in two cases, suggesting an origin from two homologous X chromosomes. Homozygosity was found at all informative loci in seven cases, which therefore are probably the product of either centromere misdivision or sister-chromatid exchange. Presence of Xp markers was seen both in the three i(Xq) chromosomes which appeared dicentric by cytogenetic analysis and in three additional cytogenetically monocentric cases. Mean parental ages were greater for the maternally derived cases as compared with the paternally derived cases.

Abstract

Fourteen individuals with an i(Xq) or idic(Xq) were studied using RFLP analysis in order to determine both parental origin and extent of heterozygosity of the isochromosome and to search for the presence of short-arm material. In five cases the isochromosome was paternally derived, while nine patients had a maternal i(Xq). The analysis of heterozygosity of the nine maternally derived isochromosomes by using Xq markers showed heterozygosity in two cases, suggesting an origin from two homologous X chromosomes. Homozygosity was found at all informative loci in seven cases, which therefore are probably the product of either centromere misdivision or sister-chromatid exchange. Presence of Xp markers was seen both in the three i(Xq) chromosomes which appeared dicentric by cytogenetic analysis and in three additional cytogenetically monocentric cases. Mean parental ages were greater for the maternally derived cases as compared with the paternally derived cases.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical)
Language:English
Date:November 1991
Deposited On:18 Apr 2023 13:49
Last Modified:29 Apr 2024 01:37
Publisher:Elsevier
ISSN:0002-9297
OA Status:Closed
Free access at:PubMed ID. An embargo period may apply.
PubMed ID:1681727
Other Identification Number:PMCID: PMC1683244
Project Information:
  • : FunderEMDO Foundation
  • : Grant ID
  • : Project Title
  • : FunderUniversity of Zurich
  • : Grant IDStiftung fur wissenschaftliche Forschung
  • : Project Title