{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T07:04:56Z","timestamp":1792047896593,"version":"4.4.0"},"reference-count":23,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2024,11,29]],"date-time":"2024-11-29T00:00:00Z","timestamp":1732838400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"FAPESP grant","award":["2013\/08028-1"],"award-info":[{"award-number":["2013\/08028-1"]}]},{"name":"DASA","award":["2013\/08028-1"],"award-info":[{"award-number":["2013\/08028-1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Balanced chromosomal translocations occur in approximately 0.16 to 0.20% of live births. While most carriers are phenotypically normal, they are at risk of generating unbalanced gametes during meiosis, leading to genetic anomalies such as aneuploidies, deletions, duplications, and gene disruptions. These anomalies can result in spontaneous abortions or congenital anomalies, including neurodevelopmental disorders. Complex chromosomal rearrangements (CCRs) involving more than two chromosomes are rare but further increase the probability of producing unbalanced gametes. Neurodevelopmental disorders such as Angelman syndrome (AS) and duplication 15q11q13 syndrome (Dup15q) are associated with such chromosomal abnormalities. Methods: This study describes a family with a de novo maternal balanced double translocation involving chromosomes 13, 19, and 15, resulting in two offspring with unbalanced chromosomal abnormalities. Cytogenetic evaluations were performed using GTG banding, fluorescence in situ hybridization (FISH), and low-pass whole-genome sequencing (LP-WGS). Methylation analysis was conducted using methylation-sensitive high-resolution melting (MS-HRM) to diagnose Angelman syndrome. Results: The cytogenetic and molecular analyses identified an 8.9 Mb duplication in 15q11.2q13.3 in one child, and an 8.9 Mb deletion in the same region in the second child. Both abnormalities affected critical neurodevelopmental genes, such as SNRPN. FISH and MS-HRM confirmed the chromosomal imbalances and the diagnosis of Angelman syndrome in the second child. The maternal balanced translocation was found to be cryptic, contributing to the complex inheritance pattern. Conclusion: This case highlights the importance of using multiple genetic platforms to uncover complex chromosomal rearrangements and their impact on neurodevelopmental disorders. The findings underscore the need for thorough genetic counseling, especially in families with such rare chromosomal alterations, to manage reproductive outcomes and neurodevelopmental risks.<\/jats:p>","DOI":"10.3390\/genes15121546","type":"journal-article","created":{"date-parts":[[2024,11,29]],"date-time":"2024-11-29T02:57:08Z","timestamp":1732849028000},"page":"1546","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2717-2342","authenticated-orcid":false,"given":"Daniela Koeller R.","family":"Vieira","sequence":"first","affiliation":[{"name":"Centro de Gen\u00e9tica M\u00e9dica, Instituto Nacional da Sa\u00fade da Mulher, da Crian\u00e7a e do Adolescente Fernandes Figueira\u2013Funda\u00e7\u00e3o Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil"},{"name":"Secretaria Municipal de Sa\u00fade de Angra dos Reis, Angra dos Reis 23906-010, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid Bendas Feres","family":"Lima","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Citogen\u00e9tica Cl\u00ednica, Centro de Gen\u00e9tica M\u00e9dica, Instituto Nacional da Sa\u00fade da Mulher, da Crian\u00e7a e do Adolescente Fernandes Figueira\u2013Funda\u00e7\u00e3o Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S\u00e3o Paulo, S\u00e3o Paulo 05508-220, Brazil"},{"name":"Diagn\u00f3sticos da Am\u00e9rica S.A., DASA, S\u00e3o Paulo 06455-010, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos Roberto da","family":"Fonseca","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Citogen\u00e9tica Cl\u00ednica, Centro de Gen\u00e9tica M\u00e9dica, Instituto Nacional da Sa\u00fade da Mulher, da Crian\u00e7a e do Adolescente Fernandes Figueira\u2013Funda\u00e7\u00e3o Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1721-0608","authenticated-orcid":false,"given":"Leonardo Henrique Ferreira","family":"Gomes","sequence":"additional","affiliation":[{"name":"Departamento de Pesquisa Cl\u00ednica, Instituto Nacional da Sa\u00fade da Mulher, da Crian\u00e7a e do Adolescente Fernandes Figueira\u2013Funda\u00e7\u00e3o Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Let\u00edcia da Cunha","family":"Guida","sequence":"additional","affiliation":[{"name":"Departamento de Pesquisa Cl\u00ednica, Instituto Nacional da Sa\u00fade da Mulher, da Crian\u00e7a e do Adolescente Fernandes Figueira\u2013Funda\u00e7\u00e3o Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patr\u00edcia Camacho","family":"Mazzonetto","sequence":"additional","affiliation":[{"name":"The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S\u00e3o Paulo, S\u00e3o Paulo 05508-220, Brazil"},{"name":"Diagn\u00f3sticos da Am\u00e9rica S.A., DASA, S\u00e3o Paulo 06455-010, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Juan","family":"Llerena","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica M\u00e9dica, Instituto Nacional da Sa\u00fade da Mulher, da Crian\u00e7a e do Adolescente Fernandes Figueira\u2013Funda\u00e7\u00e3o Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elenice Ferreira","family":"Bastos","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Citogen\u00e9tica Cl\u00ednica, Centro de Gen\u00e9tica M\u00e9dica, Instituto Nacional da Sa\u00fade da Mulher, da Crian\u00e7a e do Adolescente Fernandes Figueira\u2013Funda\u00e7\u00e3o Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,11,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1055\/s-0037-1605592","article-title":"Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier","volume":"7","author":"Peterson","year":"2018","journal-title":"J. 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