Pure duplication 1q41-qter: Further delineation of trisomy 1q syndromes

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dc.contributor.authorKulikowski L.D.
dc.contributor.authorBellucco F.T.S.
dc.contributor.authorNogueira S.I.
dc.contributor.authorChristofolini D.M.
dc.contributor.authorSmith M.D.A.C.
dc.contributor.authorDe Mello C.B.
dc.contributor.authorBrunoni D.
dc.contributor.authorMelaragno M.I.
dc.date.accessioned2024-03-13T01:37:04Z
dc.date.available2024-03-13T01:37:04Z
dc.date.issued2008
dc.description.abstractSeveral authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched palate, micro/retrognathia, low-set ears, and cardiac defects. However, defining the partial trisomy 1q syndrome is difficult, because it is a rare chromosomal abnormality and in most instances the trisomy 1q is combined with partial monosomy of another autosomal segment. We report on the clinical and molecular cytogenetic study of a patient who presents pure partial 1q duplication. This is the first case of pure duplication 1q41-qter in the literature. © 2008 Wiley-Liss, Inc.
dc.description.firstpage2663
dc.description.issuenumber20
dc.description.lastpage2667
dc.description.volume146
dc.identifier.doi10.1002/ajmg.a.32510
dc.identifier.issn1552-4825
dc.identifier.urihttps://dspace.mackenzie.br/handle/10899/37493
dc.relation.ispartofAmerican Journal of Medical Genetics, Part A
dc.rightsAcesso Restrito
dc.subject.otherlanguageDuplication 1q41
dc.subject.otherlanguageFISH-BACs
dc.subject.otherlanguageMental retardation
dc.subject.otherlanguageTrisomy 1q
dc.titlePure duplication 1q41-qter: Further delineation of trisomy 1q syndromes
dc.typeArtigo
local.scopus.citations27
local.scopus.eid2-s2.0-55549092790
local.scopus.updated2024-05-01
local.scopus.urlhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=55549092790&origin=inward
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