{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T04:37:22Z","timestamp":1769315842718,"version":"3.49.0"},"reference-count":74,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This study investigates the intergenerational transmission of benign mosaic supernumerary marker chromosomes or structural variant chromosomes (SMCs\/SVs) and explores the developmental mechanisms that maintain non-pathogenic mosaic levels across generations. While chromosomal mosaicism is widely recognized in reproductive genetics, most previous work has focused on pathogenic outcomes. Here, we highlight an underexplored phenomenon of non-pathogenic SMCs\/SVs mosaicism and propose a developmental selection model that may explain its stable inheritance.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We describe a rare father\u2013offspring pair carrying a mosaic SV at chromosome 11p11, both phenotypically normal. Karyotyping and SNP-array analyses were performed on parental blood, amniotic fluid, and cord blood. A systematic literature review identified 35 additional families with benign parent\u2013child SMCs\/SVs mosaicism. To probe potential regulatory mechanisms, four complementary computational approaches including agent-based simulation, logistic regression, Bayesian inference, and Markov chain modeling were applied to evaluate the developmental selection dynamics.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The father exhibited a 57% SV mosaic ratio, while the offspring showed comparable or slightly reduced ratios (38%\u201345%). Literature analysis revealed consistent patterns of equal or lower mosaicism in offspring across diverse SMCs types, suggesting that transmission occurs within a constrained, non-pathogenic range. Computational modeling demonstrated that even mild negative selection during blastocyst development could reproduce these retention trends, supporting a developmental selection mechanism that limits SMCs\/SVs-positive cells to a harmless threshold.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>These findings provide convergent clinical and computational evidence that early human embryos may employ a self-correction mechanism to regulate benign SMCs\/SVs mosaicism. We propose a developmental \u201cShepherd Mechanism,\u201d whereby mosaic cells are selectively eliminated until a safe equilibrium is reached, ensuring viable yet non-pathogenic inheritance. This work introduces a conceptual framework for understanding naturally tolerated chromosomal variation and offers theoretical guidance for prenatal genetic counseling and embryo selection strategies in assisted reproduction.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2025.1710280","type":"journal-article","created":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T10:47:57Z","timestamp":1763635677000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models"],"prefix":"10.3389","volume":"16","author":[{"given":"Jiayu","family":"Ruan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qinhao","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaodan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suping","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianjun","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,11,20]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1002\/1096-8628(2001)9999:9999<::aid-ajmg1146>3.0.co;2-w","article-title":"Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy","volume":"99","author":"Anderlid","year":"2001","journal-title":"Am. 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