{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:11:23Z","timestamp":1777803083351,"version":"3.51.4"},"reference-count":22,"publisher":"SAGE Publications","issue":"1_suppl","license":[{"start":{"date-parts":[[1992,4,1]],"date-time":"1992-04-01T00:00:00Z","timestamp":702086400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[1992,4]]},"abstract":"<jats:p>A 20-month-old infant with \"silvery-blond\" hair color, widespread confettilike depigmentation of the skin, and mental retardation was found to have, in lymphocytes and fibroblast cultures, increased spontaneous chromosome breaks and breaks induced by both mitomycin and \u03b3-irradiation. The sister chromatid exchange frequency was normal. This child probably represents a new chromosome breakage syndrome. (J Child Neurol 1992;7(Suppl):S79-S82.)<\/jats:p>","DOI":"10.1177\/08830738920070011211","type":"journal-article","created":{"date-parts":[[2009,9,15]],"date-time":"2009-09-15T15:05:50Z","timestamp":1253027150000},"page":"S79-S82","source":"Crossref","is-referenced-by-count":5,"title":["Riyadh Chromosome Breakage Syndrome: Mental Retardation With Depigmentation of the Skin and Hair"],"prefix":"10.1177","volume":"7","author":[{"given":"Pinar T.","family":"Ozand","sequence":"first","affiliation":[{"name":"Department of Pediatrics, King Faisal Specialist Hospital\rand Research Centre, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manjula","family":"Waghray","sequence":"additional","affiliation":[{"name":"Department of Biological and Medical Research, King\rFaisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jay D.","family":"Cook","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, King Faisal Specialist Hospital\rand Research Centre, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirtikant","family":"Sheth","sequence":"additional","affiliation":[{"name":"Department of Pathology, King Faisal Specialist Hospital\rand Research Centre, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Generoso G.","family":"Gascon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, King Faisal Specialist Hospital\rand Research Centre, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[1992,4,1]]},"reference":[{"key":"atypb1","unstructured":"Borgaonkar DS: Chromosomal breakage syndromes, in Chromosomal Variation in Man\u2014A Catalogue of Chromosomal Variants and Anomalies, 5th ed. New York, Alan Liss, 1989, pp 703-715."},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800209"},{"key":"atypb3","first-page":"532","volume":"84","year":"1990","journal-title":"Hum Genet"},{"key":"atypb4","volume-title":"ISCN: An International System for Human Cytogenetic Nomenclature","year":"1985"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1038\/251156a0"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(77)80636-7"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1976.tb00835.x"},{"key":"atypb8","unstructured":"Adams RD: Neurocutaneous diseases, in Fitzpatrick TB , Eisen AZ, Wolff K, Freedberg IM , Austen KF (eds): Dermatology in General Medicine, 2nd ed. New York, McGraw-Hill , 1979, pp 1206-1246."},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1136\/adc.53.12.961"},{"key":"atypb10","unstructured":"Scriver CR, Kaufman S., Woo SLC: The hyperphenylalaninemias, in Scriver CR , Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease, 6th ed. New York, McGraw-Hill, 1989, pp 495-546."},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1965.01600070007001"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(78)90858-6"},{"key":"atypb13","first-page":"126","volume":"195","year":"1966","journal-title":"JAMA"},{"key":"atypb14","unstructured":"Cleaver JE, Kraemer KH: Xeroderma pigmentosum, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease, 6th ed. New York, McGraw-Hill, 1989, pp 2949-2974."},{"key":"atypb15","first-page":"233","volume":"4","year":"1966","journal-title":"Semin Hematol"},{"key":"atypb16","doi-asserted-by":"publisher","DOI":"10.1038\/250223a0"},{"key":"atypb17","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1981.tb05740.x"},{"key":"atypb18","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(85)90123-X"},{"key":"atypb19","first-page":"566","volume":"34","year":"1982","journal-title":"Am J Hum Genet"},{"key":"atypb20","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(77)90227-3"},{"key":"atypb21","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.71.11.4508"},{"key":"atypb22","doi-asserted-by":"publisher","DOI":"10.1007\/BF00390236"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738920070011211","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738920070011211","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:35:01Z","timestamp":1777494901000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738920070011211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,4]]},"references-count":22,"journal-issue":{"issue":"1_suppl","published-print":{"date-parts":[[1992,4]]}},"alternative-id":["10.1177\/08830738920070011211"],"URL":"https:\/\/doi.org\/10.1177\/08830738920070011211","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,4]]}}}