{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:40:02Z","timestamp":1760773202679,"version":"build-2065373602"},"reference-count":5,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1984,6]]},"abstract":"<jats:p>Ehlers-Danlos syndrome has been divided into several different types according to the variety and severity of clinical manifestations, and may follow autosomal dominant, autosomal recessive, or X linked patterns of inheritance. Only rarely have chromosome anomalies been seen in patients manifesting phenotypic features of the syndrome and most are considered insignificant. However, one case report involved a balanced t(9;17)(q34;q11) in a female with the clinical features of Ehlers-Danlos type I and IV syndromes and, as noted by McKusick: \"It is possible, furthermore, that certain very rare syndromes that are transmitted in a Mendelian manner are the result of small chromosome aberrations, such as deletion or inversion, affecting the action of several genes\". We present a 14 year old male with features of Ehlers-Danlos type II syndrome and an unbalanced (6q;13q) translocation.<\/jats:p>","DOI":"10.1136\/jmg.21.3.226","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"226-228","source":"Crossref","is-referenced-by-count":8,"title":["An unbalanced (6q;13q) translocation in a male with clinical features of Ehlers-Danlos type II syndrome."],"prefix":"10.1136","volume":"21","author":[{"given":"P R","family":"Scarbrough","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Daw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A J","family":"Carroll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S C","family":"Finley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1984,6,1]]},"reference":[{"key":"ref_1","article-title":"defects atlas and compendium","volume-title":"The National Foundation-March of Dimes","author":"DBirth, Bergsma","year":"1979","unstructured":"Bergsma D, ed. Birth defects atlas and compendium. 2nd ed. The National Foundation-March of Dimes. Baltimore: Williams and Wilkins, 1979.","edition":"2nd ed"},{"issue":"28","key":"ref_2","first-page":"228","article-title":"Variants of the Ehlers-Danlos syndrome: clinical, biochemical, haematological and chromosomal features of 100 patients","volume":"1969","author":"Beighton, P.; Price, A.; Lord, J.; Dickson, E.","unstructured":"Beighton P, Price A, Lord J, Dickson E. Variants of the Ehlers-Danlos syndrome: clinical, biochemical, haematological and chromosomal features of 100 patients. Ann Rheum Dis 1969;28:228-42.","journal-title":"Ann Rheum Dis"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1136\/jmg.19.5.380","article-title":"Gross congenital abnormality associated with an apparently balanced chromosomal translocation t(9; 17)(q34; qll)","volume":"19","author":"Dockery, H.E.; Neale, H.C.; Fitzgerald, P.H.","year":"1982","unstructured":"Dockery HE, Neale HC, Fitzgerald PH. Gross congenital abnormality associated with an apparently balanced chromosomal translocation t(9;17)(q34;qll). J Med Genet 1982;19:380-3.","journal-title":"J Med Genet"},{"key":"ref_4","article-title":"Human genetics","author":"McKusick, V.A.","year":"1964","unstructured":"McKusick VA. Human genetics. New Jersey: Prentice Hall, 1964."},{"key":"ref_5","first-page":"1434","article-title":"The metabolic basis of inherited disease","author":"Stanbury, J.B.","year":"1983","unstructured":"Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds. The metabolic basis of inherited disease. 5th ed, chap 63. New York: McGrawHill, 1983:1434-7.","edition":"5th ed,"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.21.3.226","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:12:28Z","timestamp":1760771548000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.21.3.226"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,6]]},"references-count":5,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1984,6,1]]},"published-print":{"date-parts":[[1984,6]]}},"alternative-id":["10.1136\/jmg.21.3.226"],"URL":"https:\/\/doi.org\/10.1136\/jmg.21.3.226","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1984,6]]}}}