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Interstitial deletion of band q12 of chromosome 5

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dc.contributor.author Deeb, Mary
dc.contributor.author Dudin, Gertrud
dc.contributor.author Alexander, Denis
dc.contributor.author Talj, Fayrouz
dc.contributor.author Musallam, Salim
dc.contributor.author Der Kaloustian, Vazken M.
dc.date.accessioned 2016-11-23T13:36:09Z
dc.date.available 2016-11-23T13:36:09Z
dc.date.copyright 1984 en_US
dc.date.issued 2016-11-23
dc.identifier.issn 0009-9163 en_US
dc.identifier.uri http://hdl.handle.net/10725/4843
dc.description.abstract A six-months-old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)(411q13). The parents are consanguineous. Their karyotypes were normal. The genes for Arylsulphatase B and Hexosaminidase B are not located in band 5q12 en_US
dc.language.iso en en_US
dc.title Interstitial deletion of band q12 of chromosome 5 en_US
dc.type Article en_US
dc.description.version Published en_US
dc.author.school SOM en_US
dc.author.idnumber 200900035 en_US
dc.author.department N/A en_US
dc.description.embargo N/A en_US
dc.relation.journal Clinical Genetics: an international journal of genetics and molecular medicine en_US
dc.journal.volume 25 en_US
dc.journal.issue 5 en_US
dc.article.pages 455-458 en_US
dc.keywords Arylsulphatase B en_US
dc.keywords Hexosaminidase B en_US
dc.keywords Mental retardation en_US
dc.keywords Multiple congenital malformations en_US
dc.keywords Partial monosomy 5q en_US
dc.identifier.doi http://dx.doi.org/10.1111/j.1399-0004.1984.tb02016.x en_US
dc.identifier.ctation Dudin, G., Alexander, D., Talj, F., Deeb, M., Musallam, S., & Kaloustian, V. M. D. (1984). Interstitial deletion of band q12 of chromosome 5. Clinical genetics, 25(5), 455-458. en_US
dc.author.email mary.deeb@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.1984.tb02016.x/abstract en_US
dc.author.affiliation Lebanese American University en_US


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