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Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy


Baumer Wolz, Alessandra; Dres, D; Basaran, S; Isçi, H; Dehgan, T; Schinzel, Albert (2003). Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy. Cytogenetic and Genome Research, 101(1):5-7.

Abstract

We report on the molecular investigations performed on an embryo with tetraploidy, karyotype 92,XXXY. The embryo was spontaneously aborted after eight weeks of gestation. Molecular analyses were performed in order to determine the parental origin and mode of formation of the two additional haploid sets of chromosomes. Microsatellite markers mapping to pericentromeric chromosome regions were used. Our results show a maternal origin of one additional set of chromosomes most likely due to the incorporation of the polar body of meiosis I and a paternal origin of the second additional set of chromosomes most likely due to dispermy. The karyotype 92,XXXY is rather unusual, indeed the vast majority of cases with tetraploidy have the karyotypes 92,XXXX or 92,XXYY. To the best of our knowledge this is the first case with 92,XXXY for which molecular investigations have been performed.

Abstract

We report on the molecular investigations performed on an embryo with tetraploidy, karyotype 92,XXXY. The embryo was spontaneously aborted after eight weeks of gestation. Molecular analyses were performed in order to determine the parental origin and mode of formation of the two additional haploid sets of chromosomes. Microsatellite markers mapping to pericentromeric chromosome regions were used. Our results show a maternal origin of one additional set of chromosomes most likely due to the incorporation of the polar body of meiosis I and a paternal origin of the second additional set of chromosomes most likely due to dispermy. The karyotype 92,XXXY is rather unusual, indeed the vast majority of cases with tetraploidy have the karyotypes 92,XXXX or 92,XXYY. To the best of our knowledge this is the first case with 92,XXXY for which molecular investigations have been performed.

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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 > Molecular Biology
Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:tetraploidy, PCR analysis
Language:English
Date:2003
Deposited On:17 Jan 2023 15:39
Last Modified:28 Apr 2024 01:44
Publisher:Karger
ISSN:1424-8581
OA Status:Green
Publisher DOI:https://doi.org/10.1159/000073410
PubMed ID:14571129
  • Content: Published Version
  • Language: English