{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:52:32Z","timestamp":1761101552424},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2001,10,23]],"date-time":"2001-10-23T00:00:00Z","timestamp":1003795200000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2001,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The identification of small supernumerary marker chromosomes (SMCs) and the elucidation of their clinical significance remain two of the problems in classical human cytogenetics. We observed a small supernumerary ring in amniotic fluid cell cultures and identified its origin as r(2)(p10q11.2) and its extent by means of fluorescent <jats:italic>in situ<\/jats:italic> hybridisation (FISH). Uniparental disomy (UPD) was excluded by microsatellite analysis using polymorphic markers localised in the same region. On the basis of normal ultrasonographic checks, the patient decided to continue the pregnancy. A normal female was delivered at term and subsequent neonatal follow\u2010ups confirmed the normal phenotype and development. In the present case, genetic counselling was not helpful because of the absence of reference cases. Detailed characterisation made it possible to correlate the normal baby phenotype with the trisomic 2p10\u20102q11.2 genomic region. Further molecular cytogenetic investigations of SMCs classified by DNA content and pregnancy outcome data should improve genetic counselling and risk evaluation. Copyright \u00a9 2001 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.74","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T21:15:54Z","timestamp":1030310154000},"page":"801-805","source":"Crossref","is-referenced-by-count":8,"title":["Identification of a small supernumerary marker chromosome, r(2)(p10q11.2), and the problem of determining prognosis"],"prefix":"10.1002","volume":"21","author":[{"given":"N.","family":"Villa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Riva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Colombo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Sala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Mariani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Zorloni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Crosti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Dalpr\u00e0","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,10,23]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90148-L"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980203)75:4<367::AID-AJMG5>3.0.CO;2-N"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970130403"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530103"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040704"},{"key":"e_1_2_1_7_1","volume-title":"An International System for Human Cytogenetic Nomenclature","author":"ISCN","year":"1995"},{"key":"e_1_2_1_8_1","first-page":"157","volume-title":"Human Cytogenetics","author":"Lichter P","year":"1992"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1159\/000472176","article-title":"Clinical heterogeneity in 16 patients with invdup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect","volume":"4","author":"Mignon C","year":"1996","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01213097"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991126)87:3<217::AID-AJMG4>3.0.CO;2-#"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00222713"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00205086"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/302709"},{"key":"e_1_2_1_15_1","first-page":"995","article-title":"De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints","volume":"49","author":"Warburton D","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_1","first-page":"175","article-title":"The use of PCR and ethidium bromide staining to detect length variation in short repeat units","volume":"3","author":"Watkins C","year":"1991","journal-title":"Technique"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.74","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.74","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T11:31:47Z","timestamp":1700307107000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.74"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,10]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2001,10]]}},"alternative-id":["10.1002\/pd.74"],"URL":"https:\/\/doi.org\/10.1002\/pd.74","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,10]]}}}