{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T10:56:33Z","timestamp":1771066593000,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,4,25]],"date-time":"2018-04-25T00:00:00Z","timestamp":1524614400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["17\u201029423A"],"award-info":[{"award-number":["17\u201029423A"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:p>Microdeletions of 17q24.2\u2010q24.3 have been described in several patients with developmental and speech delay, growth retardation, and other features. The relatively large size and limited overlap of the deletions complicate the genotype\u2010phenotype correlation. We identified a girl with intellectual disability, growth retardation, dysmorphic features, and a de novo 2.8 Mb long deletion of 17q24.2\u2010q24.3. Her phenotype was strikingly similar to one previously described boy with Dubowitz syndrome (MIM 223370) and a de novo 3.9 Mb long deletion encompassing the deletion of our patient. In addition, both patients had the shortest telomeres among normal age\u2010matched controls. Our review of all 17q24.2\u2010q24.3 deletion patients revealed additional remarkable phenotypic features shared by the patients, some of which have consequences for their management. Proposed novel genotype\u2010phenotype correlations based on new literature information on the region include the role of <jats:italic>PSMD12<\/jats:italic> and <jats:italic>BPTF<\/jats:italic>, the genes recently associated with syndromic neurodevelopmental disorders, and a possible role of the complex topologically associated domain structure of the region, which may explain some of the phenotypic discrepancies observed between patients with similar but not identical deletions. Nevertheless, although different diagnoses including the Dubowitz, Nijmegen breakage (MIM 251260), Silver\u2010Russell (MIM 180860), or Myhre (MIM 139210) syndromes were originally considered in the 17q24.2\u2010q24.3 deletion patients, they clearly belong to one diagnostic entity defined by their deletions and characterized especially by developmental delay, specific facial dysmorphism, abnormalities of extremities and other phenotypes, and possibly also short telomere length.<\/jats:p>","DOI":"10.1002\/ajmg.a.38711","type":"journal-article","created":{"date-parts":[[2018,4,26]],"date-time":"2018-04-26T06:26:17Z","timestamp":1524723977000},"page":"1438-1442","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Association of 17q24.2\u2010q24.3 deletions with recognizable phenotype and short telomeres"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6772-8862","authenticated-orcid":false,"given":"Miroslava","family":"Hancarova","sequence":"first","affiliation":[{"name":"Department of Biology and Medical Genetics 2nd Faculty of Medicine and University Hospital Motol, Charles University Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcela","family":"Malikova","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics 2nd Faculty of Medicine and University Hospital Motol, Charles University Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michaela","family":"Kotrova","sequence":"additional","affiliation":[{"name":"CLIP, Department of Pediatric Hematology and Oncology 2nd Faculty of Medicine and University Hospital Motol, Charles University Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Drabova","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics 2nd Faculty of Medicine and University Hospital Motol, Charles University Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Trkova","sequence":"additional","affiliation":[{"name":"Gennet Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zdenek","family":"Sedlacek","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics 2nd Faculty of Medicine and University Hospital Motol, Charles University Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,4,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-013-0181-x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.09.002"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/joim.12083"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/30.10.e47"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100605"},{"key":"e_1_2_6_7_1","first-page":"157","article-title":"The diagnosis and treatment of dyskeratosis congenita: A review","volume":"5","author":"Fernandez Garcia M. 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