{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T03:12:59Z","timestamp":1764645179756},"reference-count":24,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,6]],"date-time":"2013-08-06T00:00:00Z","timestamp":1375747200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>Mosaic structural chromosomal abnormalities observed along the trophoblast\u2010mesenchyme\u2010fetal axis, although rare, pose a difficult problem for their prognostic interpretation in prenatal diagnosis. Additional issues are raised by the presence of mosaic imbalances of the same chromosome showing different sizes in the different tissues, that is, deletions and duplications in the cytotrophoblast and mesenchyme of chorionic villi (CV). Some of these cytogenetic rearrangements originate from the post\u2010zygotic breakage of a dicentric chromosome or of the product of its first anaphasic breakage. Selection of the most viable cell line may result in confined placental mosaicism of the most severe imbalance, favoring the presence of the cell lines with the mildest duplications or deletions in the fetal tissues. We document three cases of ambiguous results in CV analysis due to the presence of different cell lines involving structural rearrangements of the same chromosome which were represented differently in the trophoblast and the mesenchyme. Observation by conventional karyotype of a grossly rearranged chromosome in one of the CV preparations (direct or culture) was crucial to call attention to the involved chromosomal region in other tissues (villi or amniotic fluid), allowing the prenatal diagnosis through molecular cytogenetic methods of subtelomeric rearrangements [del(7)(q36qter); del(11)(q25qter); del(20)(p13pter)]. This would have surely been undiagnosed with the routine banding technique. In conclusion, the possibility to diagnose complex abnormalities leading to cryptic subtelomeric rearrangements, together with a better knowledge of the initial\/intermediate products leading to the final abnormal cryptic deletion should be added to the advantages of the CV sampling technique. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36035","type":"journal-article","created":{"date-parts":[[2013,8,6]],"date-time":"2013-08-06T21:29:08Z","timestamp":1375824548000},"page":"2559-2563","source":"Crossref","is-referenced-by-count":3,"title":["Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements"],"prefix":"10.1002","volume":"161","author":[{"given":"Maria Carla","family":"Pittalis","sequence":"first","affiliation":[{"name":"Cytogenetic Laboratory, Unit of Obstetrics and Gynecology Policlinico Sant'Orsola\u2010Malpighi, University of Bologna Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Mattarozzi","sequence":"additional","affiliation":[{"name":"Cytogenetic Laboratory, Unit of Obstetrics and Gynecology Policlinico Sant'Orsola\u2010Malpighi, University of Bologna Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Menozzi","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Mother &amp; Child University of Modena Modena Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michela","family":"Malacarne","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics, Department of Genetic, Perinatal and Gynecologic Sciences Galliera Hospital Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilaria","family":"Baccolini","sequence":"additional","affiliation":[{"name":"Cytogenetic Laboratory, Unit of Obstetrics and Gynecology Policlinico Sant'Orsola\u2010Malpighi, University of Bologna Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Farina","sequence":"additional","affiliation":[{"name":"Cytogenetic Laboratory, Unit of Obstetrics and Gynecology Policlinico Sant'Orsola\u2010Malpighi, University of Bologna Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Pompilii","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, Policlinico Sant'Orsola\u2010Malpighi University of Bologna Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela","family":"Magini","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, Policlinico Sant'Orsola\u2010Malpighi University of Bologna Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Percesepe","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Mother &amp; 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