Rett syndrome phenotype in XXY karyotype: Case report Fenótipo rett em paciente com cariótipo XXY: Relato de caso
Tipo
Artigo
Data de publicação
1998
Periódico
Arquivos de Neuro-Psiquiatria
Citações (Scopus)
11
Autores
Schwartzman J.S.
De Souza A.M.C.
Faiwichow G.
Hercowitz L.H.
De Souza A.M.C.
Faiwichow G.
Hercowitz L.H.
Orientador
Título da Revista
ISSN da Revista
Título de Volume
Membros da banca
Programa
Resumo
We 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.