{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T15:46:43Z","timestamp":1758124003203},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":5058,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on an infant, born to a diabetic mother, who presented with hypocalcemia and congenital heart disease, presurgically diagnosed by echocardiography as truncus arteriosus type I. Cytogenetic analysis showed a 45,X, \u2212Y, \u221222, + der\u2010(Y)t(Y;22) (p11.3q11.2) chromosome abnormality with del(22)(q11.2). Parental chromosomes were normal. Autopsy showed persistent truncus arteriosus type II and thymic aplasia consistent with DiGeorge anomaly. This report adds to the existing literature demonstrating an association between DiGeorge anomaly and monosomy 22q11.<\/jats:p>","DOI":"10.1002\/ajmg.1320400214","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:27:22Z","timestamp":1118546842000},"page":"196-198","source":"Crossref","is-referenced-by-count":13,"title":["Di George anomaly associated with a <i>de novo<\/i> Y;22 translocation resulting in monosomy del(22)(q11.2)"],"prefix":"10.1002","volume":"40","author":[{"given":"James R.","family":"Lupski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Langston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H.","family":"Ledbetter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Greenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282098"},{"key":"e_1_2_1_3_1","first-page":"244","article-title":"Partial monosomy 22 pter\u2010q11 in a newborn with the clinical features of trisomy 13 syndrome","volume":"23","author":"Back E","year":"1980","journal-title":"Ann Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01245.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80207-3"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278938"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80382-8"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(65)81796-6"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.4.225"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284812"},{"key":"e_1_2_1_11_1","first-page":"888","article-title":"Molecular studies of DiGeorge syndrome","volume":"46","author":"Fibison WJ","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80841-8"},{"key":"e_1_2_1_13_1","first-page":"605","article-title":"Cytogenetic findings in a prospective series of patients with DiGeorge anomaly","volume":"43","author":"Greenberg F","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291554"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80116-9"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb01794.x"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250615"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320124"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00173.x"},{"key":"e_1_2_1_20_1","first-page":"358","article-title":"Multiple anomalies including thymic aplasia associated with monosomy 22","volume":"6","author":"Rosenthal IM","year":"1972","journal-title":"Pediatr Res"},{"key":"e_1_2_1_21_1","first-page":"80","article-title":"Partial monosomy 22 as a result of an X\/22 translocation in a newborn with DiGeorge syndrome","volume":"30","author":"Schwanitz G","year":"1987","journal-title":"Ann Genet"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1257746"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320400214","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320400214","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T01:29:59Z","timestamp":1698024599000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320400214"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,8]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1991,8]]}},"alternative-id":["10.1002\/ajmg.1320400214"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320400214","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,8]]}}}