{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T00:42:24Z","timestamp":1698280944433},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":4997,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Molecular cytogenetic techniques were used to delineate a subtle chromosome rearrangement in an infant with growth and psychomotor retardation, abnormal scalp hair pattern, narrow palpebral fissures, broad nasal bridge, bulbous nose, small nostrils, thin lips in a cupid's bow configuration, bilateral simian creases, and unilateral cryptorchidism. Analysis using GTG\u2010banded chromosomes at about 400 band level showed no obvious abnormality. Prometaphase analysis at about 600 band level showed an extra band at 14q32 on GTG\u2010banding. The father had the same extra band suggesting a reciprocal translocation but the second chromosome involved in the translocation could not be identified. High resolution replication banding on the father's lymphocytes showed a balanced reciprocal translocation 46,XY,rcp(8;14)(q24.1;q32.1). The translocation was confirmed by in situ hybridization with an immunoglobulin heavy chain probe which maps to 14q32.3. The infant therefore had duplication of 8q24.1\u2192qter and deficiency of 14q32.1\u2192qter. His phenotype resembled that of patients with partial duplications of the distal long arm of chromosome 8.<\/jats:p>","DOI":"10.1002\/ajmg.1320410124","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:26:45Z","timestamp":1118550405000},"page":"99-101","source":"Crossref","is-referenced-by-count":7,"title":["High resolution replication banding combined with in situ hybridization for the delineation of a subtle chromosome rearrangement"],"prefix":"10.1002","volume":"41","author":[{"given":"Mazin B.","family":"Qumsiyeh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. Sid","family":"Wilroy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph N.","family":"Peeden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Avirachan T.","family":"Tharapel","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\/BF00293284"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.1.67"},{"key":"e_1_2_1_4_1","first-page":"57","volume-title":"Human Cytogenetics: A Practical Approach","author":"Benn PA","year":"1986"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295525"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(84)90381-6"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110209"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00327364"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.15.6295"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.2.147"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.2.133"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(90)90276-Z"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272513"},{"issue":"6","key":"e_1_2_1_14_1","first-page":"309","article-title":"Familial translocation t(8;14) with a case of tertiary trisomy, + 14q","author":"Soudek D","year":"1978","journal-title":"BD:OAS"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.80.22.6932"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320410124","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320410124","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T05:03:48Z","timestamp":1698037428000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320410124"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,10]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1991,10]]}},"alternative-id":["10.1002\/ajmg.1320410124"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320410124","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,10]]}}}