Human aneuploidy: Incidence, origin, and etiology

Hassold, Terry; Abruzzo, Michael A.; Adkins, Kenneth; Griffin, Darren K.; Merrill, Michelle; Millie, Elise; Saker, Denise M.; Shen, Joseph; Zaragoza, Michael V.

doi:10.1002/(sici)1098-2280(1996)28:3<167::aid-em2>3.0.co;2-b

Cited by 400 publications

(98 citation statements)

References 24 publications

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“…Complete trisomy for each chromosome, including chromosome 1, has meanwhile been identified in early spontaneous abortions with trisomies 16, 21 and 22 being the most frequent. 25,26 The distribution of individual trisomies in our CGH and non-CGH cases, however, are comparable with the exception of trisomy 7. The high incidence of trisomy 7 (10.2%) in our CGH series is most striking.…”

Section: Discussionmentioning

confidence: 98%

“…Together with trisomy 22, trisomy 7 is the second most common trisomy compared to a 3.2% rate of our non-CGH control group and a 3.4% rate of other studies. 26 However, intergroup differences in the frequency of trisomy 7 were of borderline significance (P=0.08). Recent molecular studies of autosomal trisomies 16, 18, and 21 have shown that non-disjunction originated predominantly from maternal meiosis I and that factors such as abnormal recombinations play an important role in its genesis.…”

Section: Discussionmentioning

confidence: 99%

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Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions

et al. 2001

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Comparative genomic hybridisation (CGH) represents an alternative molecular-cytogenetic technique capable of detecting chromosomal imbalances by reverse fluorescence in situ hybridisation. As the technique uses genomic DNA for assessment it does not rely on metaphase chromosomes in the test material and thus circumvents technical problems associated with tissue culturing. In the present study, we applied CGH to identify chromosome anomalies in 60 spontaneous abortions of the first trimester, that had failed to grow in culture. In 57 out of 60 cases CGH analyses were successful. The overall aneuploidy rate detected was 72%. Trisomy was the predominant chromosome anomaly accounting for 68.0% of abnormal abortions, followed by triploidy (17.1%) and monosomy X (9.8%). An unbalanced structural rearrangement was found in one (2.4%) abortion. Most frequently involved in trisomies were chromosomes 16 (32.1%), 7 and 22 (10.7% each), 4, 13, 15, and 21 (7.2 % each). Three triploid cases and one complete mole were detected by microsatellite analysis as supplementary method. CGH data on culture failures were compared with data derived from 4693 successfully karyotyped first trimester spontaneous abortions, resulting in a chromosome aberration rate of 64.8%. The distribution of the different chromosome anomalies was similar with the exception of a higher rate of trisomies 7 and of XYY-triploidies in the culture failures. Based on our data we suggest that the genetic contribution to pregnancy loss is still underestimated. Investigating abortion tissues hitherto unassessed by conventional methods, we suggest that the contribution of chromosome aberrations to first trimester pregnancy loss is nearly 70%.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions

et al. 2001

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“…The paired homologous chromosomes segregate to the opposite poles at the first meiotic division (meiosis I) and the sister chromatids segregate at the second meiotic division (meiosis II). Understanding the mechanisms for proper segregation of chromosomes is clinically important because chromosome missegregation during meiosis is a major cause of human miscarriage and trisomy disease (Hassold et al, 1996).…”

Section: Introductionmentioning

confidence: 99%

Reconstruction of the Kinetochore during Meiosis in Fission Yeast Schizosaccharomyces pombe

Hayashi

Asakawa

Haraguchi

et al. 2006

MBoC

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During the transition from mitosis to meiosis, the kinetochore undergoes significant reorganization, switching from a bipolar to a monopolar orientation. To examine the centromere proteins that are involved in fundamental reorganization in meiosis, we observed the localization of 22 mitotic and 2 meiotic protein components of the kinetochore during meiosis in living cells of the fission yeast. We found that the 22 mitotic proteins can be classified into three groups: the Mis6-like group, the NMS (Ndc80-Mis12-Spc7) group, and the DASH group, based on their meiotic behavior. Mis6-like group proteins remain at the centromere throughout meiosis. NMS group proteins disappear from the centromere at the onset of meiosis and reappear at the centromere in two steps in late prophase. DASH group proteins appear shortly before metaphase of meiosis I. These observations suggest that Mis6-like group proteins constitute the structural basis of the centromere and that the NMS and DASH group proteins reassemble to establish the functional metaphase kinetochore. On the other hand, the meiosis-specific protein Moa1, which plays an important role in forming the meiotic monopolar kinetochore, is loaded onto the centromere significantly earlier than the NMS group, whereas another meiosis-specific protein, Sgo1, is loaded at times similar to the NMS group.

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“…15 To the best of our knowledge, this report represents one of the first efforts to fill this review gap. The purpose of this study, therefore, is to answer the following questions through a systematic review of the extant literature: (1) What are the factors associated with a parental decision to terminate a pregnancy after detection of a SCA? (2) What are the factors associated with a parental decision to continue a pregnancy?…”

mentioning

confidence: 99%

Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature

Jeon

Chen

Goodson

2012

Genetics in Medicine

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Human aneuploidy: Incidence, origin, and etiology

Cited by 400 publications

References 24 publications

Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions

Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions

Reconstruction of the Kinetochore during Meiosis in Fission Yeast Schizosaccharomyces pombe

Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature

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