{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T22:01:40Z","timestamp":1698530500521},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3745,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,2,13]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In some cases of gonadal dysgenesis, cytogenetic analysis seems to be discordant with the phenotype of the patients. We have applied techniques such as Southern blot analysis and fluorescent in situ hybridization (FISH) to resolve the phenotype\/genotype discrepancy in a patient with ambiguous genitalia in whom the peripheral blood karyotype was 45,X. Gonadectomy at age 7 months showed the gonadal tissue to be prepubertal testis on the left side and a streak gonad on the right. The karyotype obtained from the left gonad was 45,X\/46,XXq\u2010 and that from the right gonad was 45,X. Three different techniques, PCR amplification, FISH, and chromosome painting for X and Y chromosomes, confirmed the presence of Y chromosome sequences. Five different tissues were evaluated. The highest percentage of Y chromosome positive cells were detected in the left gonad, followed by the peripheral blood lymphocytes, skin fibroblasts, and buccal mucosa. No Y chromosomal material could be identified in the right gonad. Since the Xq\u2010 chromosome is present in the left gonad (testis), it is likely that the Xq\u2010 contains Y chromosomal material. Sophisticated analysis in this patient showed that she has at least 2 cell lines, one of which contains Y chromosomal material. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320550418","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:54:26Z","timestamp":1118512466000},"page":"483-488","source":"Crossref","is-referenced-by-count":17,"title":["Detection of Y chromosome sequences in a 45,X\/46,XXq\u2013 patient by Southern blot analysis of PCR\u2010amplified DNA and fluorescent in situ hybridization (FISH)"],"prefix":"10.1002","volume":"55","author":[{"given":"Mirjana","family":"Kocova","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Selma Feldman","family":"Siegel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon L.","family":"Wenger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter A.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Nalesnik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Trucco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199111000-00003"},{"key":"e_1_2_1_3_1","first-page":"578","article-title":"True hermaphroditism in a 46, XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex\u2010determining locus (SRY): molecular genetics and histological findings in a sporadic case","volume":"52","author":"Braun A","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210772"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490407"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420612"},{"key":"e_1_2_1_7_1","first-page":"157","article-title":"Y Chromosome\u2010specific DNA sequences in Turner\u2010syndrome mosaicism","volume":"41","author":"Gemill RM","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1990.tb00379.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/348452a0"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(93)91345-M"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)90053-1"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370117"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00215672"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00591069"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00221943"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80242-1"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90595-2"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01899739"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/346240a0"},{"key":"e_1_2_1_20_1","first-page":"679","article-title":"Mixed gonadal dysgenesis. A review of 15 patients reporting single cases of malignant intratubular germ cell neoplasia of the testis, endometrial adenocarcinoma, and a complex vascular anomaly","volume":"114","author":"Wallace TM","year":"1990","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)42303-2"},{"key":"e_1_2_1_22_1","series-title":"The Practical Approach Series","author":"Wilkinson DG","year":"1992"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320550418","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320550418","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T21:30:31Z","timestamp":1698355831000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320550418"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,2,13]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1995,2,13]]}},"alternative-id":["10.1002\/ajmg.1320550418"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320550418","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,2,13]]}}}