{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:46:33Z","timestamp":1764171993263},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2008,6,28]],"date-time":"2008-06-28T00:00:00Z","timestamp":1214611200000},"content-version":"vor","delay-in-days":4106,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[1997,4]]},"abstract":"<jats:p>We describe a family carrying a balanced 4; 11 translocation in which both adjacent\u20101 segregants are viable. The proband had an unbalanced karyotype: 46,XY,der(11)t(4;11)(q34.3;q23.1)mat. At 8.5 years of age he showed trigonocephaly, hypertelorism, epicanthal folds, down\u2010slanting palpebral fissures, low\u2010set ears, anteverted nares, down\u2010turned carp\u2010shaped mouth, and bilateral fifth finger clinodactyly. His maternal aunt was also dysmorphic with high\u2010arched palate, short philtrum and mild developmental delay. Her karyotype was 46,XX,der(4)t(4;11)\u2010(q34.3;q23.1)pat. Other relatives who likely carried a chromosomally unbalanced segregant were identified from photographs and medical records. We compare the clinical findings in our family with descriptions of other similar karyotypic abnormalities from previous case reports.<\/jats:p>","DOI":"10.1111\/j.1399-0004.1997.tb02464.x","type":"journal-article","created":{"date-parts":[[2010,7,19]],"date-time":"2010-07-19T10:13:22Z","timestamp":1279534402000},"page":"250-256","source":"Crossref","is-referenced-by-count":1,"title":["Reciprocal translocation 4; 11 with both adjacent\u20101 segregants viable within a family"],"prefix":"10.1111","volume":"51","author":[{"given":"Jill Cellars","family":"Rogers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Harris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda M.","family":"Pasztor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,6,28]]},"reference":[{"key":"e_1_2_1_1_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02722206"},{"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":"10.1002\/ajmg.1320090209"},{"key":"e_1_2_1_4_1","first-page":"228","article-title":"Prenatal diagnosis of deletion 11q23 \u2192 qter. 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Report of three new patients","volume":"35","author":"Obregon MG","year":"1992","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb04042.x"},{"key":"e_1_2_1_22_1","first-page":"676","article-title":"Clinical and molecular characterization of patients with distal 11q deletions","volume":"56","author":"Penny LA","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278696"},{"key":"e_1_2_1_24_1","doi-asserted-by":"crossref","unstructured":"PivnickEK TharapelAT WilroyRS SmithME RoseSR TiptonRE.Jacobsen syndrome: a review of 42 cases and report of a patient with severe eye anomalies growth hormone deficiencies and deletion (11q23q25). 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