{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T09:47:47Z","timestamp":1791020867484,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5909,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Eighteen girls with Aicardi syndrome were identified through a survey of neurologists, geneticists, and ophthalmologists. All had infantile seizures, developmental delay, agenesis of the corpus callosum (complete: 72%, partial: 28%), and characteristic chorioretinal lacunar lesions. Costovertebral defects including hemivertebrae, scoliosis, and absent or malformed ribs were present in 39%, cortical heterotopias were present in 50%, and microphthalmia was identified in a third. Cytogenetic investigation was carried out in all families. An unbalanced X;3 translocation, 46,X,der(X)t(X;3) (p22.3;p23)mat, was discovered in a girl with chorioretinal lacunar lesions characteristic of Aicardi syndrome, developmental delay, and infantile seizures. However, this child had a normal appearing corpus callosum on CT and magnetic resonance imaging scans and therefore did not meet the criteria for inclusion in the study. Chromosomes of all other patients and parents were normal. Findings at birth, age of seizure onset, treatment, and prognosis are discussed. The pedigree data from these 18 families demonstrated an unaffected male:female sib ratio of 1:1.7 and a 14% spontaneous abortion rate. The findings of this study support the contention that Aicardi syndrome is an X\u2010linked dominant disorder with early embryonic lethality in hemizygous males and that all cases represent new mutations.<\/jats:p>","DOI":"10.1002\/ajmg.1320320405","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T22:58:35Z","timestamp":1118530715000},"page":"461-467","source":"Crossref","is-referenced-by-count":104,"title":["Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome"],"prefix":"10.1002","volume":"32","author":[{"given":"Alan E.","family":"Donnenfeld","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger J.","family":"Packer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire M.","family":"Chee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bea","family":"Sellinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly S.","family":"Emanuel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80460-4"},{"key":"e_1_2_1_3_1","first-page":"1103","article-title":"Le syndrome spasmes en flexion, ag\u00e9n\u00e9sie calleuse, anomalies chorior\u00e9tiennes","volume":"26","author":"Aicardi J","year":"1969","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_1_4_1","first-page":"609","article-title":"A new syndrome: Spasms in flexion, callosal agenesis, ocular abnormalities","volume":"19","author":"Aicardi J","year":"1965","journal-title":"Electroencephalogr Clin Neurophysiol"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410050513"},{"key":"e_1_2_1_6_1","first-page":"237","article-title":"Perinatal lethal osteogenesis imperfecta (OI type II): A biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen","volume":"42","author":"Byers PH","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","first-page":"189","volume-title":"Recent Advances in Epilepsy","author":"Chevrie JJ","year":"1986"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1542\/peds.76.3.450","article-title":"Aicardi syndrome in one dizygotic twin","volume":"76","author":"Constad WH","year":"1985","journal-title":"Pediatrics"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.26.12.1152"},{"key":"e_1_2_1_10_1","first-page":"123","article-title":"The occurrence of new mutants in the X\u2010linked recessive Lesch\u2010Nyhan disease","volume":"28","author":"Francke U","year":"1976","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273014"},{"key":"e_1_2_1_12_1","first-page":"278","article-title":"The Aicardi syndrome in a 47,XXY male","volume":"15","author":"Hopkins IJ","year":"1979","journal-title":"Aust Paediatr J"},{"key":"e_1_2_1_13_1","first-page":"1041","article-title":"Aicardi syndrome in a male infant","volume":"97","author":"Hunter AGW","year":"1980","journal-title":"Editorial correspondence. 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