{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:40:06Z","timestamp":1759722006787,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,3]]},"abstract":"<jats:p>We present monozygotic twin boys with features of Kabuki syndrome. The twins were discordant for cleft palate and coarctation of the aorta. The occurrence of Kabuki syndrome in monozygotic twins has not been previously reported and reinforces the belief that this condition has a genetic basis. Chromosomal analysis on the boys showed a pseudodicentric chromosome 13 with an inactive centromere and satellite stalks at 13q12.11: 46,XY,psu dic(13)(13pter--&gt;13q12.11::13p12--&gt;13q11.00:: 13q12.11--&gt;13qter). Their phenotypically normal mother appears to carry the same pseudodicentric chromosome 13.<\/jats:p>","DOI":"10.1136\/jmg.32.3.227","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"227-230","source":"Crossref","is-referenced-by-count":31,"title":["Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13."],"prefix":"10.1136","volume":"32","author":[{"given":"S A","family":"Lynch","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K A","family":"Ashcroft","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Zwolinski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Burn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/S0022-3476(81)80255-7","article-title":"Kabuki makeup syndrome: a syndrome of mental retardation, unusual facies, large protruding ears, and postnatal growth deficiency","volume":"99","author":"Niikawa, N.; Matsuura, N.; Fukushima, Y.","year":"1981","unstructured":"Niikawa N, Matsuura N, Fukushima Y, et al. Kabuki makeup syndrome: a syndrome of mental retardation, unusual facies, large protruding ears, and postnatal growth deficiency. Jf Pediatr 1981;99:565-9.","journal-title":"Jf Pediatr"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1002\/ajmg.1320330317","article-title":"Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome","volume":"33","author":"Halal, F.; Gledhill, R.; Dudkiewicz, A.","year":"1989","unstructured":"Halal F, Gledhill R, Dudkiewicz A. Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome. Am JMed Genet 1989;33:376-81.","journal-title":"Am JMed Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1002\/ajmg.1320310312","article-title":"Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients","volume":"31","author":"Y, Niikawa N.Kuroki; T, Kajii","year":"1988","unstructured":"Niikawa N. Kuroki Y, Kajii T, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am JMed Genet 1988;31:565-89.","journal-title":"Am JMed Genet"},{"key":"ref_4","first-page":"63","article-title":"Kabuki make up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases","volume":"1","author":"Philip, N.; Meinecke, P.; David, A.","year":"1992","unstructured":"Philip N, Meinecke P, David A, et al. Kabuki make up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases. Clin Dysmorphol 1992;1:63-77.","journal-title":"Clin Dysmorphol"},{"key":"ref_5","first-page":"857","article-title":"Genomic imprinting: review and relevance to human diseases","volume":"46","author":"Hall, J.G.","year":"1990","unstructured":"Hall JG. Genomic imprinting: review and relevance to human diseases. Am J Hum Genet 1990;46:857-73.","journal-title":"Am J Hum Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1136\/jmg.31.8.644","article-title":"Maternal uniparental disomy of chromosome 13 in a phenotypically normal child","volume":"31","author":"Slater, H.; Shaw, J.H.; Dawson, G.","year":"1994","unstructured":"Slater H, Shaw JH, Dawson G, et al. Maternal uniparental disomy of chromosome 13 in a phenotypically normal child. J Med Genet 1994;31:644-6.","journal-title":"J Med Genet"},{"key":"ref_7","first-page":"477","article-title":"Catalogue of unbalanced chromosomal aberrations in man","author":"Schinzel, A.","year":"1983","unstructured":"Schinzel A. Catalogue of unbalanced chromosomal aberrations in man. Berlin: Walter de Gruyter, 1983:477-535."},{"key":"ref_8","first-page":"181","article-title":"Familial pericentric inversion of chromosome 13,46 XX, inv(l3)(pl3; ql 1): a new variant","volume":"36","author":"Mohammed, F.M.; Krishna Murthy, D.S.; Farag, T.I.","year":"1993","unstructured":"Mohammed FM, Krishna Murthy DS, Farag TI, et al. Familial pericentric inversion of chromosome 13,46 XX, inv(l3)(pl3;ql 1): a new variant. Ann Genet (Paris) 1993; 36:181-5.","journal-title":"Ann Genet (Paris)"},{"key":"ref_9","first-page":"593602","article-title":"Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations","volume":"9","author":"Noel, B.; Quack, B.; Rethore, M.O.","year":"1976","unstructured":"Noel B, Quack B, Rethore MO. Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations. Clin Genet 1976;9:593602.","journal-title":"Clin Genet"},{"key":"ref_10","first-page":"87","article-title":"translocation","volume":"28","author":"Fonatsch, C.; Flatz, S.D.","year":"1975","unstructured":"Fonatsch C, Flatz SD. De novo (11; 13) translocation. Humangenetik 1975;28:87-9 1.","journal-title":"Humangenetik"},{"issue":"8","key":"ref_11","first-page":"337","article-title":"A case of","volume":"1","author":"Suzuki, Y.; Ono, K.; Oka, S.","year":"1977","unstructured":"Suzuki Y, Ono K, Oka S, et al. A case of (1 3q;1 8q) translocation with proximal 13q monosomy. Hum Genet 1977; 38:337-41.","journal-title":"Hum Genet; translocation with proximal 13q monosomy"},{"key":"ref_12","first-page":"269","article-title":"Partial 6q monosomy\/partial 12q trisomy in a child with features of Kabuki make-up syndrome","volume":"2","author":"Jardine, P.E.; Burvill-Holmes, L.C.; Schutt, W.H.","year":"1993","unstructured":"Jardine PE, Burvill-Holmes LC, Schutt WH, et al. Partial 6q monosomy\/partial 12q trisomy in a child with features of Kabuki make-up syndrome. Clin Dysmorphol 1993;2: 269-73.","journal-title":"Clin Dysmorphol"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1136\/jmg.30.6.482","article-title":"Three patients with ring (X) chromosomes and a severe phenotype","volume":"30","author":"Dennis, N.R.; Collins, A.L.; Crolla, J.A.","year":"1993","unstructured":"Dennis NR, Collins AL, Crolla JA, et al. Three patients with ring (X) chromosomes and a severe phenotype. J Med Genet 1993;30:482-6.","journal-title":"J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.3.227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:22:03Z","timestamp":1759720923000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.3.227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,3]]},"references-count":13,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1995,3,1]]},"published-print":{"date-parts":[[1995,3]]}},"alternative-id":["10.1136\/jmg.32.3.227"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.3.227","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1995,3]]}}}