{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T23:03:54Z","timestamp":1790550234079,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,7,6]],"date-time":"2020-07-06T00:00:00Z","timestamp":1593993600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The University Hospital of Poitiers"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Deletions in the 12q21 region are rare and non\u2010recurrent CNVs. To date, only 11 patients with deletions in this region have been reported in the literature. These patients most often presented with syndromic intellectual deficiency, ventriculomegaly or hydrocephalus, ectodermal abnormalities, growth retardation and renal and cardiac malformations, suggesting a recognizable microdeletion syndrome. We report three new patients with overlapping deletions of the 12q21 region, including the smallest deletion reported to date and the first case characterized by array CGH during pregnancy. We describe specific clinical findings and shared facial features as developmental delay, ectodermal abnormalities, ventriculomegaly or hydrocephalus, axial hypotonia or spastic diplegia, growth retardation, heart defect, hydronephrosis, ureteral reflux or horseshoe kidney, large thorax or pectus excavatum, syndactyly of 2\u20133 toes, pterygium coli or excess nuchal skin, large anterior fontanel, low set ears, prominent forehead, short\u2010upturned nose with nostril hypoplasia, microretrognathia and hypertelorism. These new patients and a comprehensive review of the literature allow us to define a minimum critical region spanning 1.6 Mb in 12q21. By screening the critical region using prediction tools, we identified two candidate genes: <jats:italic>SYT1<\/jats:italic>and <jats:italic>PPP1R12A<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.61734","type":"journal-article","created":{"date-parts":[[2020,7,7]],"date-time":"2020-07-07T06:05:25Z","timestamp":1594101925000},"page":"2133-2138","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including <scp><i>SYT1<\/i><\/scp> and <scp><i>PPP1R12A<\/i><\/scp>"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8526-9484","authenticated-orcid":false,"given":"Tanguy","family":"Niclass","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Centre Hospitalier Universitaire de Poitiers  Poitiers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwenael","family":"Le Guyader","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Centre Hospitalier Universitaire de Poitiers  Poitiers France"},{"name":"EA 3808 NEUVACOD Universit\u00e9 de Poitiers  Poitiers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Beneteau","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Centre Hospitalier Universitaire de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine","family":"Joubert","sequence":"additional","affiliation":[{"name":"Department of Anatomic and Fetal Pathology Centre Hospitalier Universitaire de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Pizzuti","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Policlinico di Roma  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Giuffrida","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Casa Sollievo della Sofferenza Cytogenetics Unit  San Giovanni Rotondo FG Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Casa Sollievo della Sofferenza Cytogenetics Unit  San Giovanni Rotondo FG Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7182-9914","authenticated-orcid":false,"given":"Brigitte","family":"Gilbert\u2010Dussardier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Centre Hospitalier Universitaire de Poitiers  Poitiers France"},{"name":"EA 3808 NEUVACOD Universit\u00e9 de Poitiers  Poitiers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Bilan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Centre Hospitalier Universitaire de Poitiers  Poitiers France"},{"name":"EA 3808 NEUVACOD Universit\u00e9 de Poitiers  Poitiers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3146-1622","authenticated-orcid":false,"given":"Matthieu","family":"Egloff","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Centre Hospitalier Universitaire de Poitiers  Poitiers France"},{"name":"Laboratoire de Neurosciences Experimentales et Cliniques INSERM  Poitiers France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105389"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2013.10.026"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci79765"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy209"},{"issue":"12","key":"e_1_2_9_6_1","first-page":"939","article-title":"Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12","volume":"36","author":"Brady A. 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