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Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge

Overview of attention for article published in Clinical Epigenetics, October 2017
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Title
Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge
Published in
Clinical Epigenetics, October 2017
DOI 10.1186/s13148-017-0410-y
Pubmed ID
Authors

Susanne Bens, Manuel Luedeke, Tanja Richter, Melanie Graf, Julia Kolarova, Gotthold Barbi, Krisztian Lato, Thomas F. Barth, Reiner Siebert

Abstract

Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole genome is usually not compatible with life, with the exception of very rare cases of patients with mosaic genome-wide uniparental disomy reported in the literature. We here report on a fetus with intrauterine growth retardation and malformations observed on prenatal ultrasound leading to invasive prenatal testing. By cytogenetic (conventional karyotyping), molecular cytogenetic (QF-PCR, FISH, array), and methylation (MS-MLPA) analyses of amniotic fluid, we detected mosaicism for one cell line with genome-wide maternal uniparental disomy and a second diploid cell line of biparental inheritance with trisomy X due to paternal isodisomy X. As expected for this constellation, we observed DNA methylation changes at all imprinted loci investigated. This report adds new information on phenotypic outcome of mosaic genome-wide maternal uniparental disomy leading to an extreme form of multilocus imprinting disturbance. Moreover, the findings highlight the technical challenges of detecting these rare chromosome disorders prenatally.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 12 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 3 25%
Other 2 17%
Student > Ph. D. Student 2 17%
Unspecified 1 8%
Unknown 4 33%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 3 25%
Medicine and Dentistry 2 17%
Nursing and Health Professions 1 8%
Chemistry 1 8%
Unspecified 1 8%
Other 0 0%
Unknown 4 33%

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 01 November 2017.
All research outputs
#9,664,415
of 12,083,996 outputs
Outputs from Clinical Epigenetics
#456
of 552 outputs
Outputs of similar age
#206,622
of 284,713 outputs
Outputs of similar age from Clinical Epigenetics
#22
of 43 outputs
Altmetric has tracked 12,083,996 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 552 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.5. This one is in the 9th percentile – i.e., 9% of its peers scored the same or lower than it.
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We're also able to compare this research output to 43 others from the same source and published within six weeks on either side of this one. This one is in the 32nd percentile – i.e., 32% of its contemporaries scored the same or lower than it.