{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T12:53:04Z","timestamp":1787143984810,"version":"build-2736575974"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7703,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a male infant with a 47,XY,+der(22),t(1;22)(q32;q11)pat karyotype. Thus, he has duplication of chromosomes 1(q32\u2192qter) and 22(pter\u2192q11). Six patients with dup 1(q32\u2192qter) and eight with dup 1(q42\u2192qter) have been described. These two groups of patients share several manifestations, including postnatal growth retardation; relative macrocephaly with widely separated sutures or large fontanelles; prominent forehead; highly arched palate; micrognathia; downward slant of the palpebral fissures; broad, flat nasal bridge; and apparently low\u2010set, malformed ears. Although many of these abnormalities are nonspecific, partial duplication of 1q should be considered in infants with relative macrocephaly, large fontanelles, and downward slant of the palpebral fissures. Our patient had duplication of the part of chromosome 22 that may be associated with the clinically variable cat\u2010eye syndrome. Patients with dup 22(pter\u2192q11) may also have downward slant of the palpebral fissures, micrognathia, and apparently low\u2010set, malformed ears. The structural gene locus for \u03b2\u2010glucosidase has been mapped to chromosome 1. \u03b2\u2010Glucosidase activity in fibroblasts from our patient was normal, and his parents' activities were not significantly different from those of control individuals. Therefore, either the locus for this enzyme is not present on 1(q32\u2192qter) or the enzyme does not consistently show a substantial gene\u2010dose effect.<\/jats:p>","DOI":"10.1002\/ajmg.1320180116","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:41:50Z","timestamp":1118518910000},"page":"125-134","source":"Crossref","is-referenced-by-count":19,"title":["Duplication of part of chromosome 1q: Clinical report and review of literature"],"prefix":"10.1002","volume":"18","author":[{"given":"Virginia V.","family":"Michels","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol Lynn","family":"Berseth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John F.","family":"O'Brien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gordon","family":"Dewald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278732"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","unstructured":"CookPJ HamertonJL(1982):Report of the Committee on Genetic Constitution of Chromosome1.","DOI":"10.1159\/000131691"},{"key":"e_1_2_1_3_2","first-page":"111","article-title":"Sixth International Workshop on Human Gene Mapping","volume":"32","author":"Oslo Conference","year":"1981","journal-title":"Cytogenet Cell Genet"},{"issue":"3","key":"e_1_2_1_4_1","first-page":"275","article-title":"Elucidation of 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TH","year":"1974","journal-title":"Humangenetik"},{"key":"e_1_2_1_12_1","first-page":"371","article-title":"Partial trisomy 1 due to a \u201cshift\u201d and probable location of the Duffy (Fy) locus","volume":"29","author":"Palmer CG","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00945.x"},{"key":"e_1_2_1_14_1","first-page":"158","article-title":"Leukocyte \u03b2\u2010glucosidase in homozygotes and heterozygotes for Gaucher disease","volume":"32","author":"Raghavan SS","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00838.x"},{"key":"e_1_2_1_16_1","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/BF00277638","article-title":"Possible trisomy 1q25\u21921q32 in a malformed girl with a de novo insertion in 1q","volume":"49","author":"Schinzel A","year":"1979","journal-title":"Hum 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