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Mosaicism for structural non-centromeric autosomal rearrangement in prenatal diagnoses: evidence for sex-specific selection against chromosomal abnormalities

Overview of attention for article published in Molecular Cytogenetics, December 2017
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Title
Mosaicism for structural non-centromeric autosomal rearrangement in prenatal diagnoses: evidence for sex-specific selection against chromosomal abnormalities
Published in
Molecular Cytogenetics, December 2017
DOI 10.1186/s13039-017-0346-0
Pubmed ID
Authors

Natalia V. Kovaleva, Philip D. Cotter

Abstract

Mosaicism for chromosome rearrangements is common in preimplantation diagnoses, yet is rare in prenatal diagnoses as well as in other groups of patients referred to cytogenetic testing. Consequently, there is a lack of detailed studies on this kind of mosaicism in all groups of patients. Previous reports have identified a deficit of males among asymptomatic carriers of N/unbalanced Rea. Three mechanisms were proposed for explaining this phenomenon, including a high instability in the early female embryonic development, a male-specific selection against abnormal cells in the early embryo development, or a high intrauterine lethality of male carriers. To address these possibilities, we have performed a meta-analysis of male-to-female ratio (sex ratio, SR) in prenatally diagnosed and in spontaneously aborted carriers of mosaic Rea. One hundred and twenty one prenatally detected cases of normal cell line/autosome rearrangement mosaicism (N/Rea) with known carriers' sex were identified from the literature. Carriers of N/unbalanced Rea presented with 38 abnormal and 28 normal/apparently normal outcomes while carriers of N/balanced Rea presented with 24 normal and 3 abnormal outcomes. 58% of carriers of N/unbalanced Rea with an abnormal outcome displayed a high proportion (> 50%) of amniocytes with the abnormality compared to 25% of carriers with normal/apparently normal outcome. More female carriers of N/unbalanced Rea were identified with an abnormal outcome (15 M/23F) in contrast to a notable male predominance (18 M/10F) among those with normal outcome. Additionally, among spontaneously aborted carriers of N/unbalanced Rea, there was a strong female predominance (7 M/23F). Previous reports have identified a deficit of male among asymptomatic carriers of N/unbalanced Rea. The current data suggests a male-specific selection against chromosomal abnormalities.

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Mendeley readers

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The data shown below were compiled from readership statistics for 8 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 8 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 3 38%
Student > Doctoral Student 1 13%
Other 1 13%
Student > Bachelor 1 13%
Professor > Associate Professor 1 13%
Other 0 0%
Unknown 1 13%
Readers by discipline Count As %
Medicine and Dentistry 3 38%
Agricultural and Biological Sciences 2 25%
Biochemistry, Genetics and Molecular Biology 2 25%
Unknown 1 13%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 15 December 2017.
All research outputs
#20,454,971
of 23,011,300 outputs
Outputs from Molecular Cytogenetics
#298
of 402 outputs
Outputs of similar age
#375,220
of 439,919 outputs
Outputs of similar age from Molecular Cytogenetics
#7
of 8 outputs
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