Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

Golzio, Christelle; Guirchoun, Jessica; Ozilou, Catherine; Thomas, Sophie; Goudefroye, Géraldine; Morichon-Delvallez, Nicole; Vekemans, Michel; Attié‐Bitach, Tania; Etchevers, Heather C.

doi:10.1002/pd.1588

Cited by 5 publications

(8 citation statements)

References 38 publications

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“…However, at least one homogeneously affected fetus with trisomy 8 has been reported to be of meiosis I origin though the parental origin could not be confirmed. 18 Although the sample size is limited, the observed distribution of gains does not match closely the frequencies of trisomies observed among all recognised pregnancies (Figure 2). In particular, the high frequency of gains for chromsomes 11 and 19, the absence of trisomy 7 and the single trisomy 14 are unusual findings.…”

Section: Discussionmentioning

confidence: 99%

Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation

Handyside

Montag

Magli³

et al. 2012

Eur J Hum Genet

151

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Chromosome aneuploidy is a major cause of pregnancy loss, abnormal pregnancy and live births following both natural conception and in vitro fertilisation (IVF) and increases exponentially with maternal age in the decade preceding the menopause. Molecular genetic analysis following natural conception and spontaneous miscarriage demonstrates that trisomies arise mainly in female meiosis and particularly in the first meiotic division. Here, we studied copy number gains and losses for all chromosomes in the two by-products of female meiosis, the first and second polar bodies, and the corresponding zygotes in women of advanced maternal age undergoing IVF, using microarray comparative genomic hybridisation (array CGH). Analysis of the segregation patterns underlying the copy number changes reveals that premature predivision of chromatids rather than non-disjunction of whole chromosomes causes almost all errors in the first meiotic division and unlike natural conception, over half of aneuploidies result from errors in the second meiotic division. Furthermore, most abnormal zygotes had multiple aneuploidies. These differences in the aetiology of aneuploidy in IVF compared with natural conception may indicate a role for ovarian stimulation in perturbing meiosis in ageing oocytes.

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Section: Discussionmentioning

confidence: 99%

Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation

Handyside

Montag

Magli³

et al. 2012

Eur J Hum Genet

151

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show abstract

“…Multiple approaches are available to determine if a fetus has abnormal chromosomes including karyotyping [12][13][14], genomic sequencing [15][16][17]; micro-array analysis [18] and PCR based methods [8]. The non-microscope techniques have the advantage of being rapid and cost effective.…”

Section: Discussionmentioning

confidence: 99%

The high incidence of STR D21S1446 homozygosity in Han and She populations living in South Eastern China

Xia

Liu

et al. 2011

J Assist Reprod Genet

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Purpose This study investigated the allelic frequency of 4 short terminal repeats (STRs) in Han and She populations from eastern China. Methods DNA samples from Han (N0110) and She (N0110) healthy subjects were amplified using PCR and primers specific for the STRs. D21S11 and D21S1446 (chromosome 21) and D18S865 and D18S535 (chromosome 18). The frequency and homozygocity of different STRs were evaluated. Results For both populations, D21S11 and D18S535 were more polymorphic than D21S1446 and D18S865, and the D21S1446 1 allele was very common (48.6% and 55.0% for the Han and She groups, respectively).The Han and She groups significantly differed from one another in respect to the distribution of D21S11, D18S865, and D18S535 allelic frequency (all P -values≤0.48) but had a similar allelic distribution for D21S1446 (P00.106). D21S1446 was found to be homozygous about 50% of the time which was significantly greater compared to the other STRs analyzed. Conclusion This study found that the Han and She differ genetically at 3 autosomal STRs located on chromosome 18 and 21. The STR D21S1146 was often homozygous within these groups, indicating it would be poor marker for analyzing trisomy within these populations.

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“…A rare insight has been gained through a French group who have obtained products from induced abortion in very early pregnancy in some hundreds of cases, dissecting out the embryo, and testing for aneuploidy (Golzio et al, ). Most are chromosomally normal, but an occasional aneuploidy is discovered.…”

Section: The Embryo Propermentioning

confidence: 99%

“…da, dorsal aorta; nt, neural tube; ot, otic vesicle; pa#, pharyngeal arch#; pe, pharyngeal endoderm; tb, tail bud; ys, yolk sac. (From Golzio et al, . Courtesy HC Etchevers; reproduced with the permission of Wiley‐Blackwell.…”

Section: The Embryo Propermentioning

confidence: 99%

Chromosomes and clinical anatomy

Gardner

2016

Clinical Anatomy

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Chromosome abnormalities may cast light on the nature of mechanisms whereby normal anatomy evolves, and abnormal anatomy arises. Correlating genotype to phenotype is an exercise in which the geneticist and the anatomist can collaborate. The increasing power of the new genetic methodologies is enabling an increasing precision in the delineation of chromosome imbalances, even to the nucleotide level; but the classical skills of careful observation and recording remain as crucial as they always have been. Clin. Anat. 29:540-546, 2016. © 2016 Wiley Periodicals, Inc.

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Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

Abstract: We show that homogeneous, intra-embryonic trisomy 8 is compatible with implantation and early human development. Molecular pathways that may be compromised and their impact on organogenesis are discussed.

Cited by 5 publications

References 38 publications

Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation

Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation

The high incidence of STR D21S1446 homozygosity in Han and She populations living in South Eastern China

Chromosomes and clinical anatomy

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