{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:03:03Z","timestamp":1792166583470,"version":"4.4.0"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4375,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a girl with apparent hypomelanosis of Ito(ITO); cytogenetic studies disclosed the karyotype 46,X,t(X;10)(p11;q11)mat. We present further evidence that at least one of the genetic forms of ITO is located at Xp11; reviewing the clinical characteristics of patients with incontinentia pigmenti type 1 (IP1) and ITO with X\u2010autosome translocations, we suggest that IP1 and ITO represent allelic forms or a contiguous gene syndrome. Thus, different genetic alterations in this region (Xp11) give rise to ITO or IP1 or borderline phenotypes. We also suggest that all patients with ITO, due to Xp11 mutation, have functional or genetic mosaicisms. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460514","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:59:31Z","timestamp":1118509171000},"page":"529-533","source":"Crossref","is-referenced-by-count":37,"title":["Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): Further evidence of localization at Xp11"],"prefix":"10.1002","volume":"46","author":[{"given":"C\u00e9lia P.","family":"Koiffmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deise H.","family":"de Souza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aron","family":"Diament","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heloisa B.","family":"Ventura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosana S.","family":"Alves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Kihara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Wajntal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"51","article-title":"Incontinentia pigmenti (type 1) and X; 5 translocation","volume":"35","author":"Bitoun P","year":"1992","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03326.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(86)91588-6"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.12.809"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350105"},{"key":"e_1_2_1_7_1","first-page":"185","article-title":"On the excess of mental retardation and\/or congenital malformations in apparently balanced reciprocal translocation: A critical review of the Leuven data 1966\u20131991","volume":"2","author":"Fryns JP","year":"1991","journal-title":"Genet Counsel"},{"key":"e_1_2_1_8_1","first-page":"90","article-title":"Translocation (X;9)(p11:q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?","volume":"28","author":"Gilgenkranz S","year":"1985","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80332-4"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000252373"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1007\/BF00273854","article-title":"Tentative assignment of hypomelanosis of Ito to 9q33\u2192qter","volume":"75","author":"Happle R","year":"1987","journal-title":"Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284581"},{"key":"e_1_2_1_13_1","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1001\/archderm.1973.01620190068017","article-title":"Hypomelanosis of Ito (\u201cIncontinentia pigmenti achromians\u201d). 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