{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T08:26:05Z","timestamp":1722241565771},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4662,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 13\u2010month\u2010old boy with abnormalities consistent with mosaic trisomy 8 syndrome and male genitalia with partial peno\u2010scrotal transposition without hypospadias, a retractile left testis in inguinal canal, and an absent right testis. A voiding cystourethrogram showed an outpouching close to the lower right side of the bladder (utriculum) and bilateral hydronephrosis secondary to vesicoureteral reflux. Peripheral blood karyotype was 45,X\/47,XY,+8. The karyotype of cultured skin fibroblasts was 47,XY,+8 with no 45,X cells detected among 20 cells counted. Tissues removed during surgery documented a 45,X\/47,XY,+8 complement in the left testicle and utriculum, but only a 45,X line among 20 cells counted from vas deferens tissue. A possible mechanism for the origin of this previously unreported mosaicism might be an abnormal zygote with a 47,XY,+8 complement with subsequent simultaneous loss of chromosome Y and 8 in a cell at a very early embryonic stage. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440103","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:52:31Z","timestamp":1118548351000},"page":"7-10","source":"Crossref","is-referenced-by-count":15,"title":["Double mosaic aneuploidy: 45, X\/47,XY,+8 in a male infant"],"prefix":"10.1002","volume":"44","author":[{"given":"B.","family":"Schofield","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Babu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Punales\u2010Morejon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Popescu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Leiter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Franklin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V. B.","family":"Penchaszadeh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01808.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00329123"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(16)44950-2"},{"key":"e_1_2_1_5_1","first-page":"177","article-title":"Trisomie 8 en mosaique","volume":"32","author":"Giraud F","year":"1975","journal-title":"Arch Franc Ped"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000129853"},{"key":"e_1_2_1_7_1","first-page":"253","volume-title":"Human Genetics","author":"Hamerton JL","year":"1971"},{"key":"e_1_2_1_8_1","first-page":"138","article-title":"Trisomy 8 mosaicism","volume":"43","author":"Hustinx TWJ","year":"1975","journal-title":"Maandschr Kindergeneesk"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb02970.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.3.309"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb01292.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970050409"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(77)80827-5"},{"key":"e_1_2_1_14_1","volume-title":"Trisomy 8: An international study of 70 patients","author":"Riccardi VM","year":"1977"},{"issue":"3","key":"e_1_2_1_14_2","first-page":"171","author":"National Foundation\u2014March of Dimes","journal-title":"BD:DAS"},{"key":"e_1_2_1_15_1","first-page":"27","article-title":"Schizophrenia and organic brain syndrome with trisomy 8 (Group\u2010C trisomy 8) (47, XX, + 8)","volume":"10","author":"Sperber MA","year":"1975","journal-title":"Biol Psychiatry"},{"key":"e_1_2_1_16_1","first-page":"133A","article-title":"Sex selection in a 45, X, \u2013 X\/48, XY, + X, + 8 mosaic pseudo true hermaphrodite with multiple anomalies","volume":"32","author":"Tegenkamp T","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00931.x"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290314"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320440103","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320440103","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T15:52:31Z","timestamp":1698162751000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320440103"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,9]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1992,9]]}},"alternative-id":["10.1002\/ajmg.1320440103"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320440103","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,9]]}}}