{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:16:32Z","timestamp":1758161792840,"version":"3.44.0"},"reference-count":23,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Inverted duplications deletions are rare, complex, and nonrecurrent chromosomal rearrangements associated with a variable phenotype. In this case report, we described the phenotype and genotype of a 14-week-old male fetus, who was aborted after discovery of multiple anomalies (septal cystic hygroma, open abdominal wall, and a nonidentifiable lower limb). At autopsy, fluorescence in situ hybridization and array comparative genomic hybridization identified an inverted duplication with terminal deletion of 4p [46,XY,der(4)del(p16.3)dup(4)(p15.2p16.3)]. Only five genotypically similar cases have been reported, and we hope our case contribution will add meaningful to the body of knowledge.<\/jats:p>","DOI":"10.1055\/s-0040-1713156","type":"journal-article","created":{"date-parts":[[2020,6,19]],"date-time":"2020-06-19T19:25:22Z","timestamp":1592594722000},"page":"245-249","source":"Crossref","is-referenced-by-count":1,"title":["De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies"],"prefix":"10.53391","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4217-184X","authenticated-orcid":false,"given":"Paolo","family":"Fontana","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Foggia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cinzia","family":"Lombardi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Grazia","family":"Giuffrida","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Foggia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Ciavarella","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Capalbo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Foggia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianna","family":"Maioli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Scarano","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppina","family":"Cantalupo","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariateresa","family":"Falco","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gioacchino","family":"Scarano","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fortunato","family":"Lonardo","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,6,19]]},"reference":[{"issue":"02","key":"ref1","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1111\/j.1399-0004.1987.tb03335.x","article-title":"Inverted tandem duplication generates a duplication deficiency of chromosome 8p","volume":"32","author":"F J Dill","year":"1987","journal-title":"Clin 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