{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T18:31:08Z","timestamp":1785436268496,"version":"3.56.0"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,2]],"date-time":"2022-11-02T00:00:00Z","timestamp":1667347200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The 5p13 microduplication syndrome is a contiguous gene syndrome characterized by developmental delay intellectual disability, hypotonia, unusual facies with marked variability, mild limb anomalies, and in some cases brain malformations. The duplication ranges in size from 0.25 to 1.08\u2009Mb and encompasses five genes (<jats:italic>NIPBL<\/jats:italic>, <jats:italic>SLC1A3<\/jats:italic>, <jats:italic>CPLANE1<\/jats:italic>, <jats:italic>NUP155<\/jats:italic>, and <jats:italic>WDR70<\/jats:italic>), of which <jats:italic>NIPBL<\/jats:italic> has been suggested to be the main dose sensitive gene. All patients with duplication of the complete NIPBL gene reported thus far have been de novo. Here, we report a 25\u2010week\u2010old male fetus with hypertelorism, wide and depressed nasal bridge, depressed nasal tip, low\u2010set ears, clenched hands, flexion contracture of elbows, knees, and left wrist, and bilateral clubfeet, bowing and shortening of long bones and brain malformation of dorsal part of callosal body. The fetus had a 667\u2009kb gain at 5p13.2 encompassing <jats:italic>SLC1A3<\/jats:italic>, <jats:italic>NIPBL<\/jats:italic> and exons 22\u201352 of <jats:italic>CPLANE1<\/jats:italic>. The microduplication was inherited from the healthy father, in whom no indication for mosaicism was detected. The family demonstrates that incomplete penetrance of 5p13 microduplication syndrome may occur which is important in genetic counseling of families with this entity.<\/jats:p>","DOI":"10.1002\/ajmg.a.63030","type":"journal-article","created":{"date-parts":[[2022,11,2]],"date-time":"2022-11-02T17:05:03Z","timestamp":1667408703000},"page":"370-377","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp>5p13<\/scp> microduplication in a malformed fetus and his unaffected father"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8467-4728","authenticated-orcid":false,"given":"Ariana","family":"Kariminejad","sequence":"first","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology and Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siavash","family":"Ghaderi\u2010Sohi","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology and Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soheila","family":"Gholami","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology and Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0951-9779","authenticated-orcid":false,"given":"Kimia","family":"Najafi","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology and Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roxana","family":"Kariminejad","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology and Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C. 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