{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:17:30Z","timestamp":1792153050410,"version":"4.4.0"},"reference-count":62,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,10]]},"abstract":"<jats:p>We present a three generation family in which a father and son have a balanced chromosome translocation between the short arms of chromosomes 5 and 11 (karyotype 46,XY,t(5;11)(p15.3;p15.3)). Two family members have inherited the unbalanced products of this translocation and are trisomic for chromosome 11p15.3--&gt;pter and monosomic for chromosome 5p15.3--&gt;pter (karyotype 46,XY,der(5)t(5;11)(p15.3;p15.3)pat). Paternally derived duplications of 11p15.5 are associated with Beckwith-Wiedemann syndrome (BWS) and both family members trisomic for 11p15.5 had prenatal overgrowth (birth weights &gt;97th centile), macroglossia, coarse facial features, and broad hands. We review the clinical features of BWS patients who have a paternally derived duplication of 11p15.5 and provide evidence for a distinct pattern of dysmorphic features in those with this chromosome duplication. Interestingly, our family is the fifth unrelated family to be reported with a balanced reciprocal translocation between the short arms of chromosomes 5 and 11. The apparently non-random nature of this particular chromosome translocation is suggestive of sequence homology between the two chromosome regions involved in the translocation.<\/jats:p>","DOI":"10.1136\/jmg.34.10.819","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"819-826","source":"Crossref","is-referenced-by-count":73,"title":["Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome."],"prefix":"10.1136","volume":"34","author":[{"given":"A","family":"Slavotinek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Gaunt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Donnai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1997,10,1]]},"reference":[{"issue":"96","key":"ref_1","first-page":"47","article-title":"Complete and incomplete forms of Beckwith-Wiedemann syndrome: their oncogenic potential","volume":"1980","author":"Sotelo-Avila, C.; Gonzalez-Crussi, F.; Fowler, J.W.","unstructured":"Sotelo-Avila C, Gonzalez-Crussi F, Fowler JW. 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