{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:43:32Z","timestamp":1764171812024},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"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":[[2005,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Trisomy 4 mosaicism is extremely rare: herein we report the cytogenetic and molecular characterization and prenatal US findings of a case diagnosed prenatally. The diagnosis of level III mosaicism was established in cultured amniotic fluid cells (22.5%). At 22 weeks gestation, micrognathia and hypotelorism were suspected at 2\u2010D sonography, and confirmed at 3\u2010D examination. In addition, 2\u2010D US showed cerebellar hypoplasia associated with borderline ventriculomegaly (confirmed at magnetic resonance imaging, MRI), spine deformity (hemivertebra), and a complete atrioventricular septal defect (AVSD). The pregnancy was terminated. Trisomy 4 mosaicism was confirmed in placental and fetal skin cultured cells. The cord blood karyotype was normal. Molecular analysis excluded uniparental disomy of chromosome 4, and indicated that the trisomy 4 was of maternal meiotic origin. In presence of chromosome 4 mosaicism, accurate fetal sonography and echocardiography are mandatory. Low level mosaicism and normal echographic examinations seem to be associated with good prognosis. In postnatal life, chromosome 4 mosaicism should be suspected, and cytogenetic analysis proposed of further tissues (i.e., skin), in presence of craniofacial dysmorphism, cardiac defects, and abnormal hands\/feet, even if mental development is appropriate or only slightly impaired. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30506","type":"journal-article","created":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T21:16:57Z","timestamp":1118092617000},"page":"66-70","source":"Crossref","is-referenced-by-count":15,"title":["Prenatal diagnosis of chromosome 4 mosaicism: Prognostic role of cytogenetic, molecular, and ultrasound\/MRI characterization"],"prefix":"10.1002","volume":"136A","author":[{"given":"Mattia","family":"Gentile","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Volpe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filomena","family":"Cariola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio Di","family":"Carlo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Marotta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonia Lucia","family":"Buonadonna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo Maria","family":"Boscia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.792"},{"key":"e_1_2_5_3_1","first-page":"77","article-title":"Molecular and cytogenetic characterization of an unusual case of partial trisomy\/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)\/46,XX,der(13)t(13;13)(q10;q14)","volume":"36","author":"Gentile M","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2280(1996)28:3<167::AID-EM2>3.0.CO;2-B"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199703)17:3<201::AID-PD56>3.0.CO;2-H"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200101)21:1<36::AID-PD979>3.0.CO;2-1"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370314"},{"key":"e_1_2_5_8_1","first-page":"602","article-title":"Intephase detection of trisomy 12 in B\u2010cell chronic lymphocytic leukaemia by fluorescence hybridisation in situ","volume":"6","author":"Qumsiyeh MB","year":"1992","journal-title":"Leukaemia"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270204"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.557"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001211)95:4<381::AID-AJMG15>3.0.CO;2-9"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30506","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30506","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T12:27:45Z","timestamp":1696681665000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30506"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,6,6]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,7]]}},"alternative-id":["10.1002\/ajmg.a.30506"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30506","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,6,6]]}}}