{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T03:40:34Z","timestamp":1783568434187,"version":"3.55.0"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,12]],"date-time":"2017-11-12T00:00:00Z","timestamp":1510444800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100010269","name":"Welcome Trust","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Over the past decade chromosomal microarray analysis (array CGH) has allowed the discovery of many novel disease\u2010causing recurrent microdeletion and microduplication syndromes. Here we present three unrelated patients (2F; 1M) from three different countries, with developmental delay, intellectual disability, hypotonia, fatigue, and highly similar dysmorphic facial features. Shared facial features are a broad and wide forehead, similar shape of the eyes with long palpebral fissures, a bulbous tip of the nose and thick lips. Intellectual disabilities range from mild to severe. One female patient and the male patient were investigated in childhood for significant hypotonia thought to be suggestive of a neuromuscular disorder. The two female patients also show excessive fatigue with daytime somnolence. The patients carry overlapping, de novo microdeletions of chromosome 17q11.2, with sizes ranging from 0.97 to 1.18\u2009Mb. The smallest region of overlap (SRO) between the three patients is 863\u2009kb, and contains seven genes, five of which are predicted to exhibit haploinsufficiency (<jats:italic>CDK5R1, PSMD11, RHOT1, SUZ12, ZNF207<\/jats:italic>) although none has yet been associated with genetic syndromes. Of these five genes, the brain expressed <jats:italic>CDK5R1<\/jats:italic> gene constitutes a good candidate for the developmental delay, while the <jats:italic>RHOT1<\/jats:italic> gene, involved in mitochondrial trafficking, might underlie the hypotonia and the excessive fatigue.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38499","type":"journal-article","created":{"date-parts":[[2017,11,12]],"date-time":"2017-11-12T12:42:37Z","timestamp":1510490557000},"page":"209-213","source":"Crossref","is-referenced-by-count":4,"title":["Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6894-7282","authenticated-orcid":false,"given":"Deborah","family":"Osio","sequence":"first","affiliation":[{"name":"The West Midlands Regional Genetics Service Birmingham Women's and Children's NHS Foundation Trust Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Rankin","sequence":"additional","affiliation":[{"name":"Peninsula Clinical Genetics Service Royal Devon and Exeter NHS Foundation Trust Exeter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannele","family":"Koillinen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Helsinki University Central Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"Reynolds","sequence":"additional","affiliation":[{"name":"Bristol Genetics Laboratory Southmead Hospital Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilde","family":"Van Esch","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,11,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2006.04040.x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST20130234"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00896.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(01)80044-1"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2011.04.011"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001154"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2009.07.002"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-014-0100-9"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1222"},{"key":"e_1_2_8_11_1","first-page":"1","article-title":"The myriad role of Miro in the nervous system: Axonal transport of mitochondria and beyond","volume":"8","author":"Lee K. 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