Translocations, inversions and other chromosome rearrangements

Morin, S.J.; Eccles, Jennifer; Iturriaga, A.; Zimmerman, Ryan M.

doi:10.1016/j.fertnstert.2016.10.013

Cited by 112 publications

(109 citation statements)

References 53 publications

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“…Translocations were found in 14 cases in our study (9 reciprocal and 5 Robertsonian). Consistent with previous studies (18,26), the 9 cases of balanced, reciprocal translocations were associated with normal phenotypes after birth. Structural imbalances are related to fetal loss, increased risk of developmental delay, and cancer (26,27).…”

Section: Discussionsupporting

confidence: 91%

Prenatal diagnosis of fetal chromosomal abnormalities among 2318 pregnant women with indications in southern China: a retrospective study

Gu¹,

Liu²,

Wang³

et al. 2020

Preprint

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Background To investigate the frequency of fetal chromosomal abnormalities among women with abnormal ultrasound, abnormal biochemical marker screening or noninvasive prenatal testing results, advanced maternal age, or history of miscarriage in southern China. Methods We retrospectively analyzed prenatal samples from pregnant women between 2015 and 2019. Conventional karyotyping was performed using GTG banding. Copy number variation sequencing was used when indicated to identify chromosomal abnormalities. Results A total of 2,318 prenatal samples (188 chorionic villus samples, 2,003 amniotic fluids, and 127 cord blood) were analyzed. The frequency of chromosomal abnormalities was 12.4% (288/2,318) in prenatal samples, and frequency in chorionic villus samples (23.9%) was higher than in amniotic fluids (13.5%) and in cord blood (5.0%; P < 0.001). Numerical anomalies were detected in 195 (8.4%) cases and the most common abnormality were trisomy 21 (103/2,318; 4.4%), trisomy 18 (31/2,318; 1.3%) and monosomy X (18/2,318; 0.8%). Sructural anomalies were found in 29 (1.3%) cases, rare anomalies such as deletions (4 cases), duplications (2 cases), and complex rearrangement (1 case), were detected. Two cases with common chromosomal polymorphisms, inv(9)(p11q12) and inv(9)(p11q13), associated with recurrent spontaneous abortion, were detected. Five fetuses had normal karyotypes and definite pathogenic copy number variations, with microdeletions at 16p13.11, 16p12.1 (2 cases), and 17p12 and a microduplication at 7q11.23; all had normal phenotypes after birth. Conclusion Our study indicated that fetal chromosomal anomalies can be detected in early gestation and provided valuable information for interpretation of chromosomal polymorphisms and copy number variations.

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Section: Discussionsupporting

confidence: 91%

Prenatal diagnosis of fetal chromosomal abnormalities among 2318 pregnant women with indications in southern China: a retrospective study

Gu¹,

Liu²,

Wang³

et al. 2020

Preprint

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“…show impaired fertility while small inversions (<30% of a chromosome arm) has 8 small or no negative effect on fertility (Morin et al, 2017). Thus, an explanation 9 for the difference in the relative abundance of inter-and intra-chromosomal 10 rearrangements among vertebrate groups could be due to differences how the 11 two types of rearrangements affect meioses.…”

Section: Integrity Of the Assembly 19mentioning

confidence: 99%

A chromosome-level assembly of the Atlantic herring – detection of a supergene and other signals of selection

Pettersson

Rochus

Fan

et al. 2019

Preprint

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“…This phenotype is associated with a chromosomal inversion in equine chromosome 3 that jeopardizes the action of the KIT gene [Brooks et al, 2007]. Finally, chromosomal inversions can lead to reproductive disorders in the same species [Morin et al, 2017] and reproductive barriers between species because they negatively affect pairing and synapsis in meiosis [Noor et al, 2001].…”

Section: Cattle-sheep Karyotype Evolutionmentioning

confidence: 99%

Cytogenetic Characterization of a Small Evolutionary Rearrangement Involving Chromosomes BTA21 and OAR18

Lorenzi

Pauciullo

Iannuzzi

et al. 2020

Cytogenet Genome Res

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DNA portion seemed to be involved. In conclusion, we showed for the first time, concerning autosomes, that besides the already known centric fusions also other differences exist between the bovine and sheep karyotypes. Furthermore, we demonstrated that the combination of a bioinformatics approach and physical mapping is a valid tool for the identification of currently unknown rearrangements between related species. © 2020 S. Karger AG, Basel Both cattle ( Bos taurus , BTA) and sheep ( Ovis aries , OAR) belong to the Bovidae family, which appeared for the first time at around 23 Mya [Vrba, 1979;Kingdon, 1989]. However, these 2 species belong to different subfamilies: the first one to the Bovinae, whereas the latter one belongs to the Caprinae, which also includes goats ( Capra hircus , CHI). The closest ancestor of cattle and sheep dates back to 19.7-21.5 Mya [Hassanin et al., 2012].From a chromosomal point of view, excluding the sex chromosomes, cattle and sheep have the same fundamental chromosomal number (FN = 58) but different diploid numbers: 2n = 60 for cattle and 2n = 54 for sheep. This difference is due to 3 autosomal centric fusions that occurred during the evolutionary process in the Bovidae family. As a matter of fact, in sheep, chromosome 1 originated from the fusion of the homologous bovine chro-Abstract Both cattle ( Bos taurus ) and sheep ( Ovis aries ) belong to the Bovidae family but to different subfamilies, Bovinae and Caprinae, respectively. From a chromosomal point of view, apart from the already known centric fusions (that occurred during the evolutionary process in the Bovidae family) and the small differences in the chromosome classification, the 2 karyotypes are very similar in banding patterns. In this study, the combination of bioinformatics techniques and physical mapping of DNA markers enabled the identification of a micro-rearrangement, a small inversion involving bovine chromosome 21 (BTA21) and the corresponding sheep chromosome 18 (OAR18). The aim of this study was the cytogenetic characterization of this difference in genomic assemblies between cattle and sheep in this single chromosome region. To verify the inversion in FISH experiments, we used the BACs 442H08 and 222H03 from the INRA library and BACs 134H22 and 436P08 from the sheep-specific CHORI library. The results confirmed the presence of the inverted fragment in sheep compared to the cattle genome. Genomic rearrangements may have consequences depending on their influence on gene activity, but in this case no gene or transcribed

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Translocations, inversions and other chromosome rearrangements

Cited by 112 publications

References 53 publications

Prenatal diagnosis of fetal chromosomal abnormalities among 2318 pregnant women with indications in southern China: a retrospective study

Prenatal diagnosis of fetal chromosomal abnormalities among 2318 pregnant women with indications in southern China: a retrospective study

A chromosome-level assembly of the Atlantic herring – detection of a supergene and other signals of selection

Cytogenetic Characterization of a Small Evolutionary Rearrangement Involving Chromosomes BTA21 and OAR18

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