De novo del(7)(pter→p21.2::p15.2→qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome

dc.contributorGarcia-Esquivel, L., Division de Genetica, Universidad de Investigacion Biomedica, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico; Garcia-Cruz, D., Division de Genetica, Universidad de Investigacion Biomedica, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico; Rivera, H., Division de Genetica, Universidad de Investigacion Biomedica, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico; Plascencia, M.L.; Cantú, J.M.
dc.creatorGarcia-Esquivel, L.
dc.creatorGarcia-Cruz, D.
dc.creatorRivera, H.
dc.creatorPlascencia, M.L.
dc.creatorCantu, J.M.
dc.date.accessioned2015-11-19T18:52:32Z
dc.date.accessioned2022-11-02T14:10:03Z
dc.date.available2015-11-19T18:52:32Z
dc.date.available2022-11-02T14:10:03Z
dc.date.created2015-11-19T18:52:32Z
dc.date.issued1986
dc.identifierhttp://hdl.handle.net/20.500.12104/67846
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-0022479682&partnerID=40&md5=1b44c8d7ed072bc795b2f1f7b0a7ddf0
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/4992020
dc.description.abstractA 4-year-old boy was found to have a typical 7p2 monosomy syndrome, including craniosynostosis, due to a de novo del(7)(pter→p21.2::p15.2→qter). It is concluded that the band 7p21 (probably only the subband p21.1) is the critical segment for the full clinical expression of this aneusomy.
dc.relationAnnales de Genetique
dc.relation29
dc.relation1
dc.relation36
dc.relation38
dc.relationScopus
dc.titleDe novo del(7)(pter→p21.2::p15.2→qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome
dc.typeArticle


Este ítem pertenece a la siguiente institución