{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:19:17Z","timestamp":1760782757742},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3857,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe an infant boy with a unique <jats:italic>de novo<\/jats:italic> translocation involving chromosomes 1 and 4, resulting in dup(4q) and del(1p). His karyotype was 46,XY,\u2212l,+der(1)t(1;4) (p36.2;q31.2). He had minor anomalies, congenital heart defect, respiratory distress, seizures, and central nervous system abnormalities. He died at age 11 weeks. The patient had manifestations of dup(4q) del(1p), and he was more seriously affected than patients having only one of these. No other patient with an identical chromosomal finding has been reported. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320530304","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:45:53Z","timestamp":1118511953000},"page":"216-221","source":"Crossref","is-referenced-by-count":11,"title":["De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p"],"prefix":"10.1002","volume":"53","author":[{"given":"Janet M.","family":"Legare","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gurbax S.","family":"Sekhon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata","family":"Laxova","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":"crossref","first-page":"179","DOI":"10.1007\/BF00277640","article-title":"Partial trisomy 4q in two unrelated cases","volume":"49","author":"Andrle M","year":"1979","journal-title":"Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.4.303"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.4.425"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430414"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281888"},{"key":"e_1_2_1_7_1","first-page":"763","article-title":"Translokation\u2010strisomie 4q bei zwei Geschwistern als Folge einer v\u00e4terlichen balancierten reziproken Translokation: t(l;4)(q44;q31)","volume":"138","author":"Bode H","year":"1990","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284601"},{"key":"e_1_2_1_9_1","first-page":"195","article-title":"Trisomie 4q26\u20134qter par translocation t(4;18)(q26;q23)mat","volume":"20","author":"Canki N","year":"1977","journal-title":"Ann Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284426"},{"key":"e_1_2_1_11_1","first-page":"53","article-title":"Monosomie 1pter par translocation familiale (1p; 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