The first case of congenital blood chimerism in two of the triplets in Korea

Chung, Yoo Na; Chun, Sejong; Phan, Minh Trang Thi; Nam, Mi Hyun; Choi, Byung Min; Cho, Duck; Choi, Ji Seon

doi:10.1002/jcla.22580

Cited by 6 publications

(9 citation statements)

References 13 publications

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“…We explored the genome sequences of Family A ( Figure 1B ) 6 . Here, the first pregnancy gave birth to a healthy girl (Child-0).…”

Section: Resultsmentioning

confidence: 99%

“…Two families with known chimerism identified by ABO genotyping were recruited for the study 6 . In the first pregnancy, a health girl (Child-0) was conceived.…”

Section: Study Participantsmentioning

confidence: 99%

“…In humans, chimerism is rare as most human dizygotic twins have a dichorionic placenta that prohibits exchanges between the two twins 3 . Human chimeras are incidentally identified later in life when individuals show unusual phenotypes, such as sexual ambiguity 4 , lines of Blaschko 5 , abnormal blood typing results 6 , or incompatible parent-child relationships in genetic testing 7 .…”

Section: Introductionmentioning

confidence: 99%

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Whole-genome sequences reveal zygotic composition in chimeric twins

Yoon,

Nam,

Kim

et al. 2023

Preprint

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SummaryThe monochorionic placenta in dizygotic twins allowsin uteroexchange of embryonic cells, resulting in chimerism in the twins. In practice, this chimerism is incidentally identified on mixed ABO blood types or in the presence of cells with a discordant sex chromosome. Here, we applied whole-genome sequencing to one triplet and one twin families to precisely understand their zygotic compositions, using millions of genomic variants as barcodes of zygotic origins. Peripheral blood showed asymmetrical contributions from two sister zygotes, where one of the zygotes was the major clone in both twins. Single-cell RNA sequencing of peripheral blood tissues further showed differential contributions from the two sister zygotes across blood cell types. In contrast, buccal tissues were pure in genetic composition, suggesting thatin uterocellular exchanges were confined to the blood tissues. Our study illustrates the cellular history of twinning during human development, which is critical for managing the health of chimeric individuals in the era of genomic medicine.

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“…We explored the genome sequences of Family A ( Figure 1B ) 6 . Here, the first pregnancy gave birth to a healthy girl (Child-0).…”

Section: Resultsmentioning

confidence: 99%

“…Two families with known chimerism identified by ABO genotyping were recruited for the study 6 . In the first pregnancy, a health girl (Child-0) was conceived.…”

Section: Study Participantsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Whole-genome sequences reveal zygotic composition in chimeric twins

Yoon,

Nam,

Kim

et al. 2023

Preprint

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“…We applied TrioMix to a pair of known chimeric monochorionic dizygotic twins (Chung et al 2018). These twins are chimeras resulting from two genetic siblings (dizygotic twins) exchanging cells with each other during their development in utero.…”

Section: Decomposing Sibling Dna Contamination In Monochorionic Dizyg...mentioning

confidence: 99%

Estimation of intrafamilial DNA contamination in family trio genome sequencing using deviation from Mendelian inheritance

et al. 2022

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With the increasing number of sequencing projects involving families, quality control tools optimized for family genome sequencing are needed. However, accurately quantifying contamination in a DNA mixture is particularly difficult when genetically related family members are the sources. We developed TrioMix, a maximum likelihood estimation (MLE) framework based on Mendel's law of inheritance, to quantify DNA mixture between family members in genome sequencing data of parent–offspring trios. TrioMix can accurately deconvolute any intrafamilial DNA contamination, including parent–offspring, sibling–sibling, parent–parent, and even multiple familial sources. In addition, TrioMix can be applied to detect genomic abnormalities that deviate from Mendelian inheritance patterns, such as uniparental disomy (UPD) and chimerism. A genome-wide depth and variant allele frequency plot generated by TrioMix facilitates tracing the origin of Mendelian inheritance deviations. We showed that TrioMix could accurately deconvolute genomes in both simulated and real data sets.

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“…Flow cytometry testing at 3 months of age revealed red cell chimerism of 88% type AB with 12% type B and 99% type B with 1% type AB (Aoki, Honma, Yada, Momoi, & Iwamoto, 2006). In another study, two neonates from a set of triplets produced mixed field reactions in gel card agglutination reactions and flow cytometry was used to establish the presence of both type A and type O cell populations (Chung et al, 2018). Flow cytometry has notable versatility and sensitivity over other blood antigen techniques, including the capacity to measure the prevalence of HLA antigens on white blood cells.…”

Section: Introductionmentioning

confidence: 99%

Chimerism in health and potential implications on behavior: A systematic review

Johnson

Ehli

Davies

et al. 2020

American J of Med Genetics Pt A

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In this review, we focus on the phenomenon of chimerism and especially microchimerism as one of the currently underexplored explanations for differences in health and behavior. Chimerism is an amalgamation of cells from two or more unique zygotes within a single organism, with microchimerism defined by a minor cell population of <1%. This article first presents an overview of the primary techniques employed to detect and quantify the presence of microchimerism and then reviews empirical studies of chimerism in mammals including primates and humans. In women, male microchimerism, a condition suggested to be the result of fetomaternal exchange in utero, is relatively easily detected by polymerase chain reaction molecular techniques targeting Y-chromosomal markers. Consequently, studies of chimerism in human diseases have largely focused on diseases with a predilection for females including autoimmune diseases, and female cancers. We detail studies of chimerism in human diseases and also discuss some potential implications in behavior. Understanding the prevalence of chimerism and the associated health outcomes will provide invaluable knowledge of human biology and guide novel approaches for treating diseases. K E Y W O R D Sautoimmune diseases, cancer, microchimerism, women

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The first case of congenital blood chimerism in two of the triplets in Korea

Abstract: This is the first recorded case of blood chimera from a triplet in Korea. We recommend full investigation of blood group chimerism in neonates with ABO discrepancy, as blood chimerism is subject to certain caution in the clinical environment.

Cited by 6 publications

References 13 publications

Whole-genome sequences reveal zygotic composition in chimeric twins

Whole-genome sequences reveal zygotic composition in chimeric twins

Estimation of intrafamilial DNA contamination in family trio genome sequencing using deviation from Mendelian inheritance

Chimerism in health and potential implications on behavior: A systematic review

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