{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:40:15Z","timestamp":1756374015427,"version":"3.44.0"},"reference-count":8,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>The monosomy 1p36 syndrome is a cause of syndromic obesity. It is characterised by psychomotor delay, hypotonia and typical craniofacial dysmorphism. Other features commonly associated are behavioural anomalies including hyperphagia and self-injuring, seizures, congenital heart disease and hypothyroidism. The authors report the case of a 9-year and 5-month-boy referred to the paediatric endocrinology clinics for morbid obesity. Clinical findings were generalised obesity with a body mass index &gt;95th centile, acanthosis nigricans of the neck, arms with self inflicted lesions, deep-set eyes, straight eyebrows, broad nasal bridge and pointed chin. He was unable to walk and had no expressive language. Cytogenetic analysis identified 1p36.33-pter deletion (~139 Mb terminal deletion in chromosome 1 short arm) and Y chromosome duplication. The blood analysis showed insulin resistance and dyslipidaemia. The authors emphasise the need to consider monosomy 1p36 as a cause of severe psychomotor delay and obesity.<\/jats:p>","DOI":"10.1136\/bcr.01.2012.5503","type":"journal-article","created":{"date-parts":[[2012,3,20]],"date-time":"2012-03-20T08:40:19Z","timestamp":1332232819000},"page":"bcr0120125503","source":"Crossref","is-referenced-by-count":4,"title":["Morbid obesity in a child with monosomy 1p36 syndrome"],"prefix":"10.1136","volume":"2012","author":[{"given":"Ana","family":"Zagalo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Dias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria de Lurdes","family":"Sampaio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2012,3,20]]},"reference":[{"key":"2025082801575410000_2012.mar20_1.bcr0120125503.1","unstructured":"Battaglia A Shaffer LG . 1p36 Deletion Syndrome. GeneReviews 2008."},{"key":"2025082801575410000_2012.mar20_1.bcr0120125503.2","unstructured":"Slavotinek A . Chromosome 1p36 deletions. Orphanet encyclopedia 2003:1\u20134."},{"key":"2025082801575410000_2012.mar20_1.bcr0120125503.3","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-0929"},{"key":"2025082801575410000_2012.mar20_1.bcr0120125503.4","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1002\/ajmg.a.33160","article-title":"Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia.","volume":"152A","author":"D\u2019Angelo","year":"2010","journal-title":"Am J Med Genet A"},{"key":"2025082801575410000_2012.mar20_1.bcr0120125503.5","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-15"},{"key":"2025082801575410000_2012.mar20_1.bcr0120125503.6","doi-asserted-by":"crossref","first-page":"1951","DOI":"10.1002\/ajmg.a.33516","article-title":"Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.","volume":"152A","author":"Rosenfeld","year":"2010","journal-title":"Am J Med Genet A"},{"key":"2025082801575410000_2012.mar20_1.bcr0120125503.7","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-3557"},{"key":"2025082801575410000_2012.mar20_1.bcr0120125503.8","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.107.181946"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr.01.2012.5503","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:58:06Z","timestamp":1756371486000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr.01.2012.5503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,3,20]]},"references-count":8,"alternative-id":["10.1136\/bcr.01.2012.5503"],"URL":"https:\/\/doi.org\/10.1136\/bcr.01.2012.5503","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2012,3,20]]}}}