{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:25:16Z","timestamp":1787163916506,"version":"build-2736575974"},"reference-count":56,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4112,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We report the use of fluorescent in\n                    <jats:italic>situ<\/jats:italic>\n                    hybridization (FISH) with a DNA library of chromosome 1\u2010specific probes to confirm the karyotype, 46,XY,15, + der15,t(1;15)(q32.1; q26.3), obtained by prenatal periumbilical blood sampling from a fetus who exhibited multiple abnormalities by ultrasound examination. GTG\u2010banding of chromosomes obtained from the mother showed a normal karyotype, while the father was unavailable for study. The propositus was born at 37 weeks gestation and survived for several weeks. Cytogenetic analysis performed after the birth of the male infant with multiple anomalies verified partial trisomy 1q. This patient is compared with other partial trisomy 1q patients reported in the literature. The usefulness of FISH is demonstrated in situations where fetal abnormalities are present with\n                    <jats:italic>de novo<\/jats:italic>\n                    chromosomal rearrangements where paternal chromosomes are unavailable for study. \u00a9 1994 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.1320500105","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:02:24Z","timestamp":1118494944000},"page":"21-27","source":"Crossref","is-referenced-by-count":25,"title":["Prenatal diagnosis of partial trisomy 1q using fluorescent in situ hybridization"],"prefix":"10.1002","volume":"50","author":[{"given":"B. R.","family":"DuPont","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. W.","family":"Huff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. E.","family":"Ridgway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. F.","family":"Stratton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. M.","family":"Moore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"97","article-title":"De novo dir dup (1)(q3200\u20134200) in an adult. Further delineation of the pure 1q trisomy syndrome","volume":"32","author":"Barros\u2010N\u00fa\u00f1ez P","year":"1989","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278732"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.9.582"},{"key":"e_1_2_1_5_1","first-page":"233","article-title":"Q and G banding techniques in the identification of chromosome anomalies in spontaneous abortions","volume":"19","author":"Bou\u00e9 J","year":"1976","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_6_1","first-page":"359","article-title":"Trisomie 1q secondaire \u00e1 une translocation r\u00e9ciproque maternelle","volume":"172","author":"Bourrouillou G","year":"1978","journal-title":"C R Soc Biol"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00289442"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02869.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340319"},{"key":"e_1_2_1_10_1","first-page":"83","article-title":"Evidence for the assignment of GUK 1 gene locus to 1q32\u2192q43 segment from gene dosage effect","volume":"23","author":"Dallapiccola B","year":"1980","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_11_1","first-page":"223","article-title":"Studio clinico e citogentico di un caso di trisomia 1q per traslocazione familiare t(1;5)(q42;p15.3)","volume":"71","author":"Duillo MT","year":"1979","journal-title":"Pathologica"},{"key":"e_1_2_1_12_1","first-page":"35A","article-title":"Partial Trisomy 1q","volume":"27","author":"Finley WH","year":"1975","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00839.x"},{"key":"e_1_2_1_14_1","first-page":"181","article-title":"Partial distal 1q trisomy. A distinct clinical dysmorphic syndrome in adulthood","volume":"23","author":"Fryns JP","year":"1980","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_15_1","first-page":"33","article-title":"Apparition de novo d'une trisomie 1q partielle en mosa\u00efque par translocation 1;9","volume":"27","author":"Gagnon JA","year":"1984","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb01512.x"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb00055.x"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030406"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390305"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03371.x"},{"key":"e_1_2_1_21_1","first-page":"707","article-title":"Detection of deletions and cryptic translocations in Miller\u2010Dieker syndrome by in situ hybridization","volume":"49","author":"Kuwano A","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_22_1","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1542\/peds.88.1.151","article-title":"Typus Edinburgensis' explained","volume":"88","author":"Laing IA","year":"1991","journal-title":"Pediat"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb02297.x"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133039"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040105"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.5.398"},{"key":"e_1_2_1_27_1","first-page":"2251","article-title":"Trisomy for distal segments of the long arm of chromosome 1","volume":"25","author":"Lurie IW","year":"1989","journal-title":"Genetika"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.5.466"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180116"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(60)90138-5"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1973.tb01935.x"},{"key":"e_1_2_1_32_1","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/BF00281010","article-title":"Trisomy of the long arm of human chromosome 1","volume":"25","author":"Norwood TH","year":"1974","journal-title":"Humangenetik"},{"key":"e_1_2_1_33_1","first-page":"371","article-title":"Partial trisomy 1 due to a \u201cshift\u201d and probable location of the Duffy (Fy) locus","volume":"29","author":"Palmer CG","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00945.x"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00209018"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.23.9138"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360203"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00838.x"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270407"},{"key":"e_1_2_1_40_1","first-page":"75A","article-title":"Partial trisomy 1q in 3 patients","volume":"26","author":"Sanger R","year":"1974","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_41_1","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/BF00277638","article-title":"Possible trisomy 1q25\u21921q32 in a malformed girl with a de novo insertion in 1q","volume":"49","author":"Schinzel A","year":"1979","journal-title":"Hum Genet"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.1.64"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180119"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240128"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00285214"},{"key":"e_1_2_1_46_1","first-page":"120","article-title":"Partial trisomy 1q and monosomy 18q due to a de novo t(1;18) (q25;q23)","volume":"26","author":"Sol\u00e9 MT","year":"1983","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00390432"},{"key":"e_1_2_1_48_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.2.133"},{"key":"e_1_2_1_49_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.4.371-a"},{"key":"e_1_2_1_50_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00394292"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2237408"},{"key":"e_1_2_1_52_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00290601"},{"key":"e_1_2_1_53_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006250-199011000-00056"},{"key":"e_1_2_1_54_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330430"},{"key":"e_1_2_1_55_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00337515"},{"key":"e_1_2_1_56_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00390442"},{"key":"e_1_2_1_57_1","first-page":"191","article-title":"Reduced phenotypic effect of partial trisomy 1q in a X\/1 translocation","volume":"20","author":"Zuffardi O","year":"1977","journal-title":"Ann G\u00e9n\u00e9t"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320500105","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320500105","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T08:27:27Z","timestamp":1698136047000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320500105"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,3]]},"references-count":56,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,3]]}},"alternative-id":["10.1002\/ajmg.1320500105"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320500105","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,3]]}}}