{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T18:01:03Z","timestamp":1700157663020},"reference-count":9,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2005,12,5]],"date-time":"2005-12-05T00:00:00Z","timestamp":1133740800000},"content-version":"vor","delay-in-days":6001,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1989,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Investigation of a couple, who had produced three babies with cri du chat syndrome, showed initially that the mother had an apparent deletion of chromosome 5. It seemed likely that she had a balanced chromosomal translocation but it proved impossible to detect the second chromosome involved using routine cytogenetic methods.<\/jats:p><jats:p>Molecular techniques using quantitative hybridization dosage studies were performed and these showed that the mother had a double dose of DNA in the suspected delected area of chromosome 5.<\/jats:p><jats:p>Further studies, using <jats:italic>in situ<\/jats:italic> hybridization techniques, revealed that the missing segment of chromosome 5 had translocated onto the short arms of a C group chromosome and further analysis of prometaphase chromosomes showed the presence of a balanced translocation, 46,XY, t(5;9)(5qter \u2192 5p14.1::9p22 \u2192 9pter;9qter \u2192 p22::5p14.1 5pter).<\/jats:p><jats:p>As a result of these findings, it was possible to offer prenatal diagnosis to the patient in furture pregnancies, by detecting the presence of a balanced or unbalanced translocation in the fetus using molecular and cytogenetic techniques.<\/jats:p>","DOI":"10.1002\/pd.1970090708","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T03:06:55Z","timestamp":1172977615000},"page":"505-513","source":"Crossref","is-referenced-by-count":5,"title":["Confirmation of a balanced chromosomal translocation using molecular techniques"],"prefix":"10.1002","volume":"9","author":[{"given":"R. D.","family":"Smart","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. E.","family":"Retief","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joan","family":"Overhauser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,12,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00327364"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132030"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00394291"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283634"},{"key":"e_1_2_1_6_1","first-page":"1","article-title":"Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype","volume":"39","author":"Overhauser J.","year":"1986","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_7_1","first-page":"562","article-title":"A fine structure physical map of the short arm of chromosome 5","volume":"39","author":"Overhauser J.","year":"1986","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_8_1","unstructured":"Smart R. D. Wilson A. Geertshuis M. Bayley F. Smart P.(1989). The use of ethidium bromide to provide high resolution banded chromosomes S. Afr. J. Med. Technol. in press."},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(75)80083-0"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.3.164"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970090708","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970090708","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T00:52:08Z","timestamp":1695775928000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970090708"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,7]]},"references-count":9,"journal-issue":{"issue":"7","published-print":{"date-parts":[[1989,7]]}},"alternative-id":["10.1002\/pd.1970090708"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970090708","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,7]]}}}