{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T04:38:18Z","timestamp":1791088698289,"version":"4.1.0"},"reference-count":12,"publisher":"FapUNIFESP (SciELO)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[1998,12]]},"abstract":"<jats:p>Relatamos o caso de um menino com cari\u00f3tipo XXY que apresenta desordem neurol\u00f3gica progressiva com in\u00edcio por volta dos 11 meses de idade, com estagna\u00e7\u00e3o do desenvolvimento seguida de regress\u00e3o. A crian\u00e7a apresenta, ainda, movimentos estereotipados de m\u00e3os, apraxia manual e microcefalia. Investiga\u00e7\u00f5es n\u00e3o constataram presen\u00e7a de qualquer condi\u00e7\u00e3o neurol\u00f3gica ou sist\u00eamica definida que pudesse ser apontada como poss\u00edvel etiologia para o quadro descrito. Trata-se de menino com altera\u00e7\u00f5es fenot\u00edpicas muito similares \u00e0quelas consideradas t\u00edpicas para a s\u00edndrome de Rett que, associadas com a altera\u00e7\u00e3o cromoss\u00f4mica constatada (cari\u00f3tipo XXY), constituem quadro de evidente interesse cient\u00edfico.<\/jats:p>","DOI":"10.1590\/s0004-282x1998000500020","type":"journal-article","created":{"date-parts":[[2005,4,15]],"date-time":"2005-04-15T14:23:01Z","timestamp":1113574981000},"page":"824-828","source":"Crossref","is-referenced-by-count":16,"title":["Fen\u00f3tipo Rett em paciente com cari\u00f3tipo XXY: relato de caso"],"prefix":"10.1590","volume":"56","author":[{"given":"JOS\u00c9 SALOM\u00c3O","family":"SCHWARTZMAN","sequence":"first","affiliation":[{"name":"Cl\u00ednica Pedi\u00e1trica S\u00e3o Paulo; Universidade Mackenzie"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ANGELA MARIA COSTA DE","family":"SOUZA","sequence":"additional","affiliation":[{"name":"Associa\u00e7\u00e3o de Assist\u00eancia \u00e0 Crian\u00e7a Defeituosa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GUIDO","family":"FAIWICHOW","sequence":"additional","affiliation":[{"name":"Hospital Israelita Albert Einstein"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LUIZ HENRIQUE","family":"HERCOWITZ","sequence":"additional","affiliation":[{"name":"Hospital Israelita Albert Einstein"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/ana.410140412","article-title":"A progressive syndrome of autism, dementia and loss of purposeful hand use in girls: Rett syndrome. 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