Rett syndrome phenotype in XXY karyotype: Case report Fenótipo rett em paciente com cariótipo XXY: Relato de caso

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dc.contributor.authorSchwartzman J.S.
dc.contributor.authorDe Souza A.M.C.
dc.contributor.authorFaiwichow G.
dc.contributor.authorHercowitz L.H.
dc.date.accessioned2024-03-13T01:47:37Z
dc.date.available2024-03-13T01:47:37Z
dc.date.issued1998
dc.description.abstractWe report the case of a XXY boy who presents progressive neurological disorder which has started around eleven months of age, with developmental stagnation followed by regression The child presents as well stereotypic hand movements, loss of purposeful hands use and microcephalia. Presence of any defined systemic or neurological condition which could be pointed out as the possible etiological factor for the case was not found out by investigations. It deals with a boy with phenotypic alterations very similar to those considered typical for Rett syndrome which associated with chromosomal alteration (XXY kariotype) constitute evident scientific interest.
dc.description.firstpage824
dc.description.issuenumber4
dc.description.lastpage828
dc.description.volume56
dc.identifier.doi10.1590/s0004-282x1998000500020
dc.identifier.urihttps://dspace.mackenzie.br/handle/10899/38072
dc.relation.ispartofArquivos de Neuro-Psiquiatria
dc.rightsAcesso Aberto
dc.subject.otherlanguageKlinefelter syndrome
dc.subject.otherlanguageRett syndrome
dc.subject.otherlanguageXXY karyotype
dc.titleRett syndrome phenotype in XXY karyotype: Case report Fenótipo rett em paciente com cariótipo XXY: Relato de caso
dc.typeArtigo
local.scopus.citations11
local.scopus.eid2-s2.0-0032249358
local.scopus.updated2024-05-01
local.scopus.urlhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0032249358&origin=inward
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