{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T03:13:05Z","timestamp":1771643585916,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,11,4]],"date-time":"2012-11-04T00:00:00Z","timestamp":1351987200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,7]]},"abstract":"<jats:p>Although discordant phenotypes in monozygotic twins with developmental disorder are not an exception, underlying genetic discordance is rarely reported. Here, we report on the clinical and cytogenetic details of 4\u2010year\u2010old female monozygotic twins with discordant phenotypes. Twin 1 exhibited global developmental delay, overweight and hyperactivity. Twin 2 had an autistic spectrum disorder. Molecular karyotyping in twin 1 identified a 2p25.3 deletion, further confirmed by Fluorescence <jats:italic>in situ<\/jats:italic> hybridization (<jats:styled-content style=\"fixed-case\">FISH<\/jats:styled-content>) analysis on leukocytes. Interestingly, array comparative genomic hybridization was normal in twin 2 but <jats:styled-content style=\"fixed-case\">FISH<\/jats:styled-content> analysis using the same probe as twin 1 showed mosaicism with one\u2010third of cells with a 2p25.3 deletion, one\u2010third of cells with a 2p25.3 duplication, and one\u2010third of normal cells. Genotyping with microsatellite markers confirmed the monozygosity of the twins. We propose that the chromosome imbalance may be due to a mitotic non\u2010allelic recombination occurring during blastomeric divisions of a normal zygote. Such event will result in three distinct cell populations, whose proportion in each embryo formed after separation from the zygote may differ, leading to discordant chromosomal anomalies between twins. We also discuss that the <jats:italic><jats:styled-content style=\"fixed-case\">MYTL1L<\/jats:styled-content><\/jats:italic> and the <jats:italic><jats:styled-content style=\"fixed-case\">SNTG2<\/jats:styled-content><\/jats:italic> genes within the reported region could probably relate to the phenotypic discordance of the monozygotic twins.<\/jats:p>","DOI":"10.1111\/cge.12036","type":"journal-article","created":{"date-parts":[[2012,10,15]],"date-time":"2012-10-15T09:34:31Z","timestamp":1350293671000},"page":"31-36","source":"Crossref","is-referenced-by-count":26,"title":["Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array <scp>CGH<\/scp>"],"prefix":"10.1111","volume":"84","author":[{"given":"M","family":"Rio","sequence":"first","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique Universit\u00e9 Paris Descartes, H\u00f4pital Necker\u2010Enfants Malades, AP\u2010HP  Paris 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G\u00e9n\u00e9tique Universit\u00e9 Paris Descartes, H\u00f4pital Necker\u2010Enfants Malades, AP\u2010HP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Bernheim","sequence":"additional","affiliation":[{"name":"INSERM U985, Institut Gustave Roussy  Villejuif France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Nizon","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique Universit\u00e9 Paris Descartes, H\u00f4pital Necker\u2010Enfants Malades, AP\u2010HP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Munnich","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique Universit\u00e9 Paris Descartes, H\u00f4pital Necker\u2010Enfants Malades, AP\u2010HP  Paris 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