{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:48:48Z","timestamp":1760906928489},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,11,21]],"date-time":"2005-11-21T00:00:00Z","timestamp":1132531200000},"content-version":"vor","delay-in-days":4342,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1994,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A case of 45,X\/46,X,+mar mosaicism was detected in a male fetus (27 weeks' gestation) referred for karyotype analysis following the observation of a short femur at the ultrasound scan. Analysis of 12 Y\u2010chromosome loci by fluorescent <jats:italic>in situ<\/jats:italic> hybridization (FISH) and polymerase chain reaction (PCR) demonstrated that the marker chromosome is of Y origin and corresponds to an authentic isochromosome for the short arm of the Y chromosome, i(Yp). The breakpoint on this marker is in YQ11\u00b71 close to the centromere. The present report illustrates the importance of FISH and PCR techniques as a complement to cytogenetic methods for accurate identification and characterization of chromosome rearrangements in prenatal diagnosis.<\/jats:p>","DOI":"10.1002\/pd.1970140105","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T06:51:42Z","timestamp":1172991102000},"page":"23-28","source":"Crossref","is-referenced-by-count":10,"title":["Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and Molecular analyses"],"prefix":"10.1002","volume":"14","author":[{"given":"Rima","family":"Slim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joelle","family":"Souli\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Hotmar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertrand","family":"Lecolier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Bercau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Bernheim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,21]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90153-6"},{"key":"e_1_2_1_3_1","first-page":"61","volume-title":"The Y Chromosome, Part B: Clinical Aspects of Y Chromosome Abnormalities","author":"B\u00fchler E. 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