{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:28:14Z","timestamp":1760783294018},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2008,6,28]],"date-time":"2008-06-28T00:00:00Z","timestamp":1214611200000},"content-version":"vor","delay-in-days":4196,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[1997,1]]},"abstract":"<jats:p>We report seven new patients with clinical features of the Smith\u2010Magenis syndrome (SMS) and small <jats:italic>de novo<\/jats:italic> interstitial deletions of 17p11.2. Four of these patients had been referred for fragile\u2010X studies, but standard G\u2010banded chromosome analysis routinely carried out in addition to the fragility tests revealed the microdeletion in chromosome 17. A relatively high proportion (\u02dc 2%) of patients referred to this Centre for fragile\u2010X investigation are found to have a chromosome abnormality other than fra(X) (q27.3), half of them (\u02dc 1%) with an unbalanced chromosome complement. The four of our seven patients with deletion 17p1 1.2 constitute 25% of those with an unbalanced karyotype, and establish this microdeletion as the most common chromosome abnormality\u2010except for fra(X) (q27.3)\u2010in patients referred for fragile\u2010X screening. The data indicate that standard karyotyping should be offered to patients with this referral indication, in addition to any molecular or chromosome fragility tests for fragile X. We also recommend that the short arm of chromosome 17 be examined critically in these patients. Moderate quality and resolution of banding (450\u2013550 bands per haploid chromosome set) are adequate for detection of the 17p11.2 deletion.<\/jats:p>","DOI":"10.1111\/j.1399-0004.1997.tb02420.x","type":"journal-article","created":{"date-parts":[[2010,7,19]],"date-time":"2010-07-19T08:03:24Z","timestamp":1279526604000},"page":"71-74","source":"Crossref","is-referenced-by-count":12,"title":["Chromosome deletion 17pl 1.2 (Smith\u2010Magenis syndrome) in seven new patients, four of whom had been referred for fragile\u2010X investigation"],"prefix":"10.1111","volume":"51","author":[{"given":"F.","family":"Behjati","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Mullarkey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Bergbaum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. C.","family":"Berry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.","family":"Docherty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,6,28]]},"reference":[{"key":"e_1_2_1_1_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1993.tb11684.x"},{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.1990.tb02372.x"},{"key":"e_1_2_1_3_1","first-page":"1207","article-title":"Molecular analysis of the Smith\u2010Magenis syndrome: a possible contiguous\u2010gene syndrome associated with del(17) (p11.2)","volume":"49","author":"Greenberg F","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","volume-title":"An international system for human cytogenetic nomenclature","author":"ISCN","year":"1985"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410219"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.11.732"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240303"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240305"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470414"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.1997.tb02420.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.1997.tb02420.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T16:40:43Z","timestamp":1698424843000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.1997.tb02420.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,1]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1997,1]]}},"alternative-id":["10.1111\/j.1399-0004.1997.tb02420.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.1997.tb02420.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,1]]}}}