{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T10:05:59Z","timestamp":1790935559786,"version":"4.1.0"},"reference-count":11,"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>We describe two females with de novo X;Y translocations, who presented at birth with irregular linear areas of erythematous skin hypoplasia involving the head and neck, along with eye findings that included microphthalmia, corneal opacities, and orbital cysts. The features in these children are similar to but distinct from those seen in females with Goltz syndrome and incontinentia pigmenti. Cytogenetic analysis has shown the X chromosome breakpoint in both females to be at Xp22.3. We suggest that this syndrome is the result of a deletion or disruption of DNA sequences in the region of Xp22.3.<\/jats:p>","DOI":"10.1136\/jmg.27.1.59","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"59-63","source":"Crossref","is-referenced-by-count":82,"title":["Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3."],"prefix":"10.1136","volume":"27","author":[{"given":"L I","family":"al-Gazali","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R F","family":"Mueller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Caine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Antoniou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"McCartney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Fitchett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N R","family":"Dennis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1990,1,1]]},"reference":[{"key":"ref_1","article-title":"Y chromosome translocations and their implications","volume-title":"The Y chromosome. Part B. Clinical aspects of Y chromosome abnormalities","author":"X, Bernstein R.","year":"1985","unstructured":"Bernstein R. X;Y chromosome translocations and their implications. In: Sandberg A, ed. The Y chromosome. Part B. Clinical aspects of Y chromosome abnormalities. New York: Alan R Liss, 1985."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1002\/ajmg.1320270313","article-title":"De novo X; Y translocation associated with imperforate anus and retinal pigmentary abnormalities","volume":"27","author":"Johnston, K.; Schonberg, S.; Littman, V.","year":"1987","unstructured":"Johnston K, Schonberg S, Littman V, et al. De novo X;Y translocation associated with imperforate anus and retinal pigmentary abnormalities. Am J Med Genet 1987;27:603-1 1.","journal-title":"Am J Med Genet"},{"key":"ref_3","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_4","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1136\/jmg.27.1.56","article-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","volume":"27","author":"Temple, I.K.; Hurst, J.A.; Hing, S.; Butler, L.; Baraitser, M.","year":"1990","unstructured":"Temple IK, Hurst JA, Hing S, Butler L, Baraitser M. 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. J Med Genet 1990;27:56-8.","journal-title":"J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1056\/NEJM198410183111603","article-title":"Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome","volume":"311","author":"Curry, C.J.R.; Magenis, R.E.; Brown, M.","year":"1984","unstructured":"Curry CJR, Magenis RE, Brown M, et al. Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N EnglJ Med 1984;311:1010-5.","journal-title":"N EnglJ Med"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/j.1399-0004.1988.tb02612.x","article-title":"X-Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata and mental retardation. DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene","volume":"34","author":"Ballabio, A.; Parenti, G.; Carrozzo, R.","year":"1988","unstructured":"Ballabio A, Parenti G, Carrozzo R, et al. X-Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata and mental retardation. DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene. Clin Genet 1988;34:31-7.","journal-title":"Clin Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1001\/archderm.1970.04000010003001","article-title":"Focal dermal hypoplasia syndrome","volume":"101","author":"Goltz, R.; Henderson, R.; Hitch, J.; Ott, J.","year":"1970","unstructured":"Goltz R, Henderson R, Hitch J, Ott J. Focal dermal hypoplasia syndrome. Arch Dermatol 1970;101:1-11.","journal-title":"Arch Dermatol"},{"key":"ref_8","article-title":"Two cases of X\/autosome translocation in females with incontinentia pigmenti. Hum Genet 1985; 71: 231-4. Two 46, XX, t(X; Y)females with linear skin defects and congenital microphthalmia: a new syndrome","author":"Hodgson, S.; Neville, B.; Jones, R.; Fear, C.; Bobrow, M.","unstructured":"Hodgson S, Neville B, Jones R, Fear C, Bobrow M. Two cases of X\/autosome translocation in females with incontinentia pigmenti. Hum Genet 1985;71:231-4. Two 46,XX,t(X;Y)females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3"},{"key":"ref_9","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; 0) (p1; q22) translocation","volume":"32","author":"Cannizzaro, L.A.; Hecht, F.","year":"1987","unstructured":"Cannizzaro LA, Hecht F. Gene for incontinentia pigmenti maps to band Xpl 1 with an (X;0) (p1;q22) translocation. Clin Genet 1987;32:66-9.","journal-title":"Clin Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1399-0004.1988.tb02607.x","article-title":"The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localisation","volume":"34","author":"Harris, A.; Lankester, S.; Beres, J.","year":"1988","unstructured":"Harris A, Lankester S, Beres J, et al. The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localisation. Clin Genet 1988;34:1-6.","journal-title":"Clin Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1111\/j.1399-0004.1984.tb02019.x","article-title":"Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity","volume":"25","author":"Delleman, J.W.; Oorthuys, J.W.E.; Bleeker-Wagemakers, E.M.; Ter Haar, B.G.A.; Ferguson, J.W.","year":"1984","unstructured":"Delleman JW, Oorthuys JWE, Bleeker-Wagemakers EM, Ter Haar BGA, Ferguson JW. Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity. 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