{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T10:06:15Z","timestamp":1790935575316,"version":"4.1.0"},"reference-count":7,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,1]]},"abstract":"<jats:p>A female infant is described with an unusual combination of eye and skin findings. Raw linear skin lesions on the face and neck were present at birth, healing to leave pigmented streaks. In addition she had left sided microphthalmia and bilateral sclerocornea. Chromosome analysis showed a terminal deletion of the short arm of the X chromosome (Xp22.2--pter). Clinical findings were similar to three previously described children with translocations involving Xp22.3. The condition probably represents a new syndrome distinct from incontinentia pigmenti and Goltz syndrome.<\/jats:p>","DOI":"10.1136\/jmg.27.1.56","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"56-58","source":"Crossref","is-referenced-by-count":50,"title":["De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies."],"prefix":"10.1136","volume":"27","author":[{"given":"I K","family":"Temple","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J A","family":"Hurst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Hing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Butler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Baraitser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1990,1,1]]},"reference":[{"key":"ref_1","first-page":"638","article-title":"An XX male and two t(X; Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3","volume":"25","author":"Al-Gazali, L.I.; Mueller, R.F.; Caine, A.","year":"1988","unstructured":"Al-Gazali LI, Mueller RF, Caine A, et al. An XX male and two t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. J Med Genet 1988;25: 638-9A.","journal-title":"J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/0888-7543(89)90350-9","article-title":"The gene for incontinentia pigmenti is assigned to Xq28","volume":"4","author":"Sefiani, A.; Abel, L.; Heuertz, S.","year":"1989","unstructured":"Sefiani A, Abel L, Heuertz S, et al. The gene for incontinentia pigmenti is assigned to Xq28. Genomics 1989;4:427-9.","journal-title":"Genomics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/BF00284581","article-title":"Two cases of X\/autosome translocations in females with incontinentia pigmenti","volume":"71","author":"Hodgson, S.V.; Neville, B.; Jones, R.W.A.","year":"1985","unstructured":"Hodgson SV, Neville B, Jones RWA, et al. Two cases of X\/autosome translocations in females with incontinentia pigmenti. Hum Genet 1985;71:231-4.","journal-title":"Hum Genet"},{"key":"ref_4","first-page":"90","article-title":"Translocation (X; 9)(pl 1; q34) in a girl with incontinentia pigmenti (IP); implications for the regional assignment of the IP locus to Xpl 1?","volume":"28","author":"Gilgenkrantz, S.; Tridon, P.; Pinet-Briquel, N.; Beurey, I.; Weber, M.","year":"1985","unstructured":"Gilgenkrantz S, Tridon P, Pinet-Briquel N, Beurey I, Weber M. Translocation (X;9)(pl 1;q34) in a girl with incontinentia pigmenti (IP); implications for the regional assignment of the IP locus to Xpl 1? Ann Genet (Paris) 1985;28:90-2."},{"key":"ref_5","first-page":"219","article-title":"Translocation (X; 13)(pll.21; ql2.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma","volume":"28","author":"Kaiii, T.; Tsukahara, M.; Fukushima, Y.; Hata, A.; Matuso, K.; Kuroki, Y.","year":"1985","unstructured":"Kaiii T, Tsukahara M, Fukushima Y, Hata A, Matuso K, Kuroki Y. Translocation (X;13)(pll.21;ql2.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma. Ann Genet (Paris) 1985;28:219-23.","journal-title":"Ann Genet (Paris)"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1111\/j.1399-0004.1987.tb03326.x","article-title":"Gene for incontinentia pigmenti maps to band Xpl 1 with an (X; lO)(pll; q22) translocation","volume":"32","author":"Cannizzarro, L.A.; Hecht, F.","year":"1987","unstructured":"Cannizzarro LA, Hecht F. Gene for incontinentia pigmenti maps to band Xpl 1 with an (X; lO)(pll;q22) translocation. Clin Genet 1987;32:66-9.","journal-title":"Clin Genet"},{"issue":"86","key":"ref_7","first-page":"708","article-title":"Focal dermal hvpoplasia","volume":"1962","author":"Goltz, R.W.; Peterson, W.C.; Gorlin, R.J.","unstructured":"Goltz RW, Peterson WC, Gorlin RJ, et al. Focal dermal hvpoplasia. Arch Dermatol 1962;86:708-17.","journal-title":"Arch Dermatol"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.27.1.56","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:49:38Z","timestamp":1760762978000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.1.56"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,1]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1990,1,1]]},"published-print":{"date-parts":[[1990,1]]}},"alternative-id":["10.1136\/jmg.27.1.56"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.1.56","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,1]]}}}