{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:44:46Z","timestamp":1764171886531},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2005,12,14]],"date-time":"2005-12-14T00:00:00Z","timestamp":1134518400000},"content-version":"vor","delay-in-days":3819,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1995,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A cytogenetic survey and follow\u2010up studies were made of 14 cases with supernumerary marker chromosomes, identified among 12 699 prenatal samples, investigated at our institution over a 10\u2010year period from 1980 to 1990. FISH (fluorescence <jats:italic>in situ<\/jats:italic> hybridization) techniques were employed to identify the chromosomal origin of the marker chromosomes. Five cases were familial, all derived from acrocentric chromosomes, and all without apparent phenotypic effects in the children. Nine cases represented <jats:italic>de novo<\/jats:italic> aberrations. In two cases (one with a marker from chromosome 14 or 22, the other with a ring\u2010like marker derived from chromosome 17), the pregnancies continued and apparently normal babies were delivered at term, but the child with a marker derived from chromosome 17 showed slight psychomotor retardation at 2 years of age. All other pregnancies with <jats:italic>de novo<\/jats:italic> markers were terminated. In three cases, significant abnormalities were found at autopsy. One of these had an isochromosome 12p and the phenotype was consistent with Pallister\u2010Killian syndrome. In conclusion, marker chromosome identification, as well as clinical follow\u2010up, is essential for the purpose of improving genetic counselling.<\/jats:p>","DOI":"10.1002\/pd.1970150705","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T11:13:38Z","timestamp":1173006818000},"page":"615-619","source":"Crossref","is-referenced-by-count":64,"title":["A 10\u2010year survey, 1980\u20131990, of prenatally diagnosed small supernumerary marker chromosomes, identified by fish analysis. Outcome and follow\u2010up of 14 cases diagnosed in a series of 12 699 prenatal samples"],"prefix":"10.1002","volume":"15","author":[{"given":"K.","family":"Br\u00f8ndum\u2010Nielsen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Mikkelsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,12,14]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03054.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550122"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291656"},{"key":"e_1_2_1_5_1","first-page":"493","article-title":"The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization","volume":"47","author":"Callen D. F.","year":"1990","journal-title":"Am. J. Hum. 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