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

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 s...

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Veröffentlicht in:Cytogenetic and genome research 2003-01, Vol.101 (1), p.5-7
Hauptverfasser: Baumer, A., Dres, D., Basaran, S., Isçi, H., Dehgan, T., Schinzel, A.
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container_issue 1
container_start_page 5
container_title Cytogenetic and genome research
container_volume 101
creator Baumer, A.
Dres, D.
Basaran, S.
Isçi, H.
Dehgan, T.
Schinzel, A.
description 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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source MEDLINE; Karger Journals; Alma/SFX Local Collection
subjects Abortion, Spontaneous
Adult
Alleles
Biological and medical sciences
Biotechnology
Cell physiology
Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes
Chromosome Aberrations - embryology
DNA - genetics
Fatal Outcome
Female
Fetal Death
Fundamental and applied biological sciences. Psychology
Gene therapy
Gestational Age
Health. Pharmaceutical industry
Humans
Industrial applications and implications. Economical aspects
Male
Microsatellite Repeats - genetics
Molecular and cellular biology
Original Article
Polymerase Chain Reaction
Polyploidy
title Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy
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