{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:43:48Z","timestamp":1764171828568},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2005,8,8]],"date-time":"2005-08-08T00:00:00Z","timestamp":1123459200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2005,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Balanced reciprocal translocation is one of the known causes of recurrent spontaneous abortions. Cytogenetic studies of unbalanced miscarriages are difficult due to the growth failure of early loss and usually macerated abortions. We present a molecular study of an abortion in which the father carries a balanced reciprocal translocation t(2;17)(q32.1;q24.3) using QF\u2010PCR and CGH techniques. DNA analysis showed the presence of a trisomy 2 due to a 3:1 interchange segregation. Recombinant events could also be investigated by comparing DNA samples from the family. We propose QF\u2010PCR in addition to CGH as an efficient diagnostic method to improve our knowledge of unbalanced offspring in balanced translocation carriers. Copyright \u00a9 2005 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.1239","type":"journal-article","created":{"date-parts":[[2005,8,8]],"date-time":"2005-08-08T12:46:43Z","timestamp":1123505203000},"page":"934-938","source":"Crossref","is-referenced-by-count":5,"title":["Trisomy 2 due to a 3:1 segregation in an abortion studied by QF\u2010PCR and CGH"],"prefix":"10.1002","volume":"25","author":[{"given":"Isabel","family":"Lorda\u2010S\u00e1nchez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Diego\u2010Alvarez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Ayuso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta Rodr\u00edguez","family":"de Alba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Jose","family":"Trujillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,8,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200209"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(00)01703-9"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040705"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deh781"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050459"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291769"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.923"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/8.10.958"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deh492"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990507)84:1<34::AID-AJMG8>3.0.CO;2-7"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/17.2.446"},{"key":"e_1_2_1_13_1","first-page":"301","article-title":"The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age","volume":"35","author":"Van Dyke DL","year":"1983","journal-title":"Am J Hum Genet"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1239","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1239","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T02:55:04Z","timestamp":1700189704000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1239"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,8,8]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2005,10]]}},"alternative-id":["10.1002\/pd.1239"],"URL":"https:\/\/doi.org\/10.1002\/pd.1239","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,8,8]]}}}