{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:22:19Z","timestamp":1760833339649,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,8]]},"abstract":"<jats:p>A de novo interstitial deletion of chromosome 13 (46,XY,del(13)(pter----q14.3::q22.3----qter] is described in a 22 year old man with severe mental retardation, poor language development, low set ears, hypertelorism, broad nasal bridge, short hands and fingers, and a history of swallowing disorder in childhood with subsequent dyspepsia. The dysmorphic features did not become evident until later childhood, supporting the view that karyotyping should be performed routinely in all children with developmental delay.<\/jats:p>","DOI":"10.1136\/jmg.28.8.533","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"533-535","source":"Crossref","is-referenced-by-count":4,"title":["Interstitial deletion of chromosome 13: prognosis and adult phenotype."],"prefix":"10.1136","volume":"28","author":[{"given":"J C","family":"Dean","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D A","family":"Couzin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G S","family":"Stephen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,8,1]]},"reference":[{"key":"ref_1","first-page":"161","article-title":"Retinoblastoma and subband deletion of chromosome 13","volume":"132","author":"Yunis, J.J.; Ramsey, N.","year":"1978","unstructured":"Yunis JJ, Ramsey N. Retinoblastoma and subband deletion of chromosome 13. AmJ Dis Child 1978;132:161-3.","journal-title":"AmJ Dis Child"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1136\/jmg.15.5.382","article-title":"Segregation ofan insertional chromosome rearrangement in three generations","volume":"15","author":"Toomey, K.E.; MohandasT, SparkesRS; KabackMM, Rimoin; D.L.","year":"1978","unstructured":"Toomey KE, MohandasT, SparkesRS, KabackMM, Rimoin DL. Segregation ofan insertional chromosome rearrangement in three generations. JMed Genet 1978;15:382-7.","journal-title":"JMed Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1111\/j.1399-0004.1976.tb01618.x","article-title":"Partial deletions and trisomies of. chromosome 13; mapping of bands associated with particular malformations","volume":"9","year":"1976","unstructured":"Noel B, Quack B, Rethore MD. 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