{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:58:36Z","timestamp":1789955916965,"version":"4.0.1"},"reference-count":45,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,9]]},"abstract":"<jats:p>We report six persons mosaic for a chromosome anomaly. All were mentally retarded and dysmorphic. Unilateral or asymmetrical features were found in all cases, in one an unusual transverse terminal limb anomaly, and in the others various degrees of hemiatrophy of the left side of the body. Five of the subjects had skin pigmentary anomalies which were distributed in the lines of Blaschko. The abnormal cell lines found were ring chromosome 22, trisomy 22, a large acrocentric marker, a deletion of 18q, a deletion of 8q, and triploidy. In four cases the clinical diagnosis was only confirmed by skin biopsy. In one case low level mosaicism in blood was fortuitously detected because of cytogenetic fragile X screening and confirmed in a skin biopsy. The sixth case was of dynamic mosaicism of a non-mosaic deletion 18q with a chromosome 18 derived marker present in a proportion of cells. Chromosome mosaicisn may cause subtle and asymmetrical clinical features and can require repeated cytogenetic investigations. The diagnosis should be actively sought as it enables accurate genetic counselling to be given.<\/jats:p>","DOI":"10.1136\/jmg.31.9.694","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"694-701","source":"Crossref","is-referenced-by-count":61,"title":["Asymmetry and skin pigmentary anomalies in chromosome mosaicism."],"prefix":"10.1136","volume":"31","author":[{"given":"C G","family":"Woods","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Bankier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Curry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L J","family":"Sheffield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S F","family":"Slaney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Voullaire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Wellesley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1994,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1002\/pd.1970040710","article-title":"European collaborative study on prenatal diagnosis","volume":"4","author":"Bui, T.H.; Iselius, L.; Lindsten, J.","year":"1984","unstructured":"Bui TH, Iselius L, Lindsten J. European collaborative study on prenatal diagnosis. Prenat Diagn 1984;4: 145-62.","journal-title":"Prenat Diagn"},{"key":"ref_2","first-page":"581","article-title":"Pigmentary lanocyte culture would clearly be the most abnormalities and mosaicism for chromosomal abdesirable diagnostic modality to assess cases of errations: association with clinical features similar to hypomelanosis of Ito","volume":"115","author":"Sybert, V.P.; Pagon, R.A.; Donlan, M.; Bradley, C.M.","year":"1990","unstructured":"Sybert VP, Pagon RA, Donlan M, Bradley CM. Pigmentary lanocyte culture would clearly be the most abnormalities and mosaicism for chromosomal abdesirable diagnostic modality to assess cases of errations: association with clinical features similar to hypomelanosis of Ito. J Pediatr 1990;115:581-6.","journal-title":"J Pediatr"},{"key":"ref_3","article-title":"A cutaneous marker of chromosome mosaicism","author":"Flannery, D.B.; Byrd, JR, Freeman; WE, Perlman; S.A.","year":"J","unstructured":"Flannery DB, Byrd JR, Freeman WE, Perlman SA. A cutaneous marker of chromosome mosaicism. Am J Hum mosome mosaicism as illlustrated by 10 of 19 Genet 1985;37:A93. persons reported by Glover et a123 who had","journal-title":"Am; Hum mosome mosaicism as illlustrated by 10 of 19 Genet 1985; 37: A93. persons reported by Glover et a123 who had"},{"key":"ref_4","first-page":"14","article-title":"Chromosome mosaicism in hypomelanosis of Ito. AmJ7Med Genet 1990; blood, normal skin, and hypopigmented skin 3S","author":"Ritter, C.L.; Steele, M.W.; Wenger, S.L.; Cohen, B.A.","unstructured":"Ritter CL, Steele MW, Wenger SL, Cohen BA. Chromosome mosaicism in hypomelanosis of Ito. 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Chroretarded and dysmorphic with asymmetrical mosome mosaicism in hypomelanosis of Ito. Am Jf Med features and spalB. Biopsies at more than one skin site may be required to show the abnormal Genet 1990;35:14-17."},{"key":"ref_7","first-page":"273","article-title":"A final word on the tricho-rhino-phalangeal syndromes. Clin Genet cell line or to show that it is not just a cultural artefact.46 Usually, however, the mosaic cell","volume":"31","author":"Biihler, E.M.; Biihler, U.K.; Beutler, C.; Fessler, R.","year":"1987","unstructured":"Biihler EM, Biihler UK, Beutler C, Fessler R. A final word on the tricho-rhino-phalangeal syndromes. Clin Genet cell line or to show that it is not just a cultural artefact.46 Usually, however, the mosaic cell 1987;31:273-5."},{"key":"ref_8","first-page":"558","article-title":"Mendelian inheritance in man","author":"McKusick, V.","year":"1992","unstructured":"McKusick V. Mendelian inheritance in man. 10th ed. 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