{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T19:38:53Z","timestamp":1776800333525,"version":"3.51.2"},"reference-count":43,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2015,5,18]],"date-time":"2015-05-18T00:00:00Z","timestamp":1431907200000},"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":[[2015,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Many chromosomal deletions encompassing the 2q23.1 region have been described ranging from small deletions of 38\u2009kb up to &gt;19\u2009Mb. Most phenotypic features of the 2q23.1 deletion syndrome are due to a <jats:italic>MBD5<\/jats:italic> gene loss independent of the size of the deletion. Here, we describe a male patient harboring a novel interstitial deletion encompassing the 2q22.3 q23.3 chromosomal region. Array\u2010CGH revealed a 7.1\u2009Mb deletion causing haploinsufficiency of several genes including <jats:italic>MBD5, ACVR2, KIF5C<\/jats:italic>, and <jats:italic>EPC2<\/jats:italic>. This patient presents with additional findings to those already described in individuals who have deletions of <jats:italic>MBD5<\/jats:italic> including toes absence of halluces, pure red cell aplasia, and intestinal aganglionosis. Interestingly, in the deleted region there are previously identified regulatory sequences which are located upstream to <jats:italic>ZEB2<\/jats:italic>, which is associated with Hirschsprung disease (HSCR). Several genes have been associated with pure red cell aplasia, but to our knowledge, this is the first time that 2q deletion is associated with this phenotype. These additional findings should be added to the list of manifestations associated with 2q deletion, and provide support for the hypothesis that this individual has a true contiguous gene deletion syndrome. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36806","type":"journal-article","created":{"date-parts":[[2015,5,18]],"date-time":"2015-05-18T13:02:57Z","timestamp":1431954177000},"page":"1865-1871","source":"Crossref","is-referenced-by-count":7,"title":["A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations"],"prefix":"10.1002","volume":"167","author":[{"given":"Antonio","family":"Bravo\u2010Oro","sequence":"first","affiliation":[{"name":"Hospital Central \u201cDr. Ignacio Morones Prieto\u201c San Luis Potos\u00ed Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iosif 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