{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T13:03:31Z","timestamp":1761743011136},"reference-count":34,"publisher":"Wiley","issue":"18","license":[{"start":{"date-parts":[[2007,8,13]],"date-time":"2007-08-13T00:00:00Z","timestamp":1186963200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Uniparental disomy (UPD) describes the inheritance of two homologous chromosomes from a single parent. Disease phenotypes associated with UPD and chromosomal imprinting, rather than with mutations, include Beckwith\u2013Wiedemann syndrome (paternal UPD11p), Angelman syndrome (paternal UPD15), Prader\u2013Willi syndrome (maternal UPD15), and transient neonatal diabetes (paternal UPD6). Here we report on the first case of paternal uniparental isodisomy of chromosome 14 with a mosaicism for a supernumerary marker chromosome 14. The patient demonstrated a small thorax with a \u2018coat hanger\u2019 shape of the ribs, kyphoscoliosis, hypoplasia of the maxilla and mandible, a broad nasal bridge with anteverted nares, contractures of the wrists with ulnar deviation bilaterally, diastasis recti, and marked muscle hypotonia. Vertical skin creases under the chin and stippled epiphyses of the humeri were features not previously described in patients with paternal UPD14. This case illustrates that as with the finding of an isochromosome, a supernumerary marker chromosome can be an important clue to the presence of UPD14. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31896","type":"journal-article","created":{"date-parts":[[2007,8,14]],"date-time":"2007-08-14T00:46:18Z","timestamp":1187052378000},"page":"2165-2171","source":"Crossref","is-referenced-by-count":21,"title":["Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14"],"prefix":"10.1002","volume":"143A","author":[{"given":"Joerg","family":"Mattes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce","family":"Whitehead","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Liehr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian","family":"Wilkinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Bear","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerry","family":"Fagan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Craven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce","family":"Bennetts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Edwards","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,8,17]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000074163"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302916"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20618"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970502)70:1<74::AID-AJMG14>3.0.CO;2-U"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0688-4"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1453"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000181605.55382.9a"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000472270"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30941"},{"key":"e_1_2_4_11_1","first-page":"A179","article-title":"Delineation 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heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13\/14 Robertsonian translocation carrier","volume":"48","author":"Wang JC","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_33_1","first-page":"943","article-title":"Maternal uniparental disomy in a patient with Prader\u2013Willi syndrome with an additional small inv dup(15) chromosome","volume":"103","author":"Wang YM","year":"2004","journal-title":"J Formos Med Assoc"},{"key":"e_1_2_4_34_1","unstructured":"WanglerMF McKayEM BhattacharjeeMB SuttonVR.2006.Skeletal Muscle Phenotype on Autopsy in Paternal Uniparental Isodisomy of Chromosome 14 [Abstract 559]. Presented at the annual meeting of The American Society of Human Genetics 12th October 2006 New Orleans Louisiana. 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