{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:08:58Z","timestamp":1761718138788},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2010,3,26]],"date-time":"2010-03-26T00:00:00Z","timestamp":1269561600000},"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":[[2010,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rieger syndrome (RS; OMIM 180500) is a rare autosomal dominant disorder of morphogenesis, with ocular and systemic abnormalities and variability in phenotypic expression. Some patients with RS presented with a deletion of the band 4q25 to which the homeobox gene <jats:italic>PIT X2<\/jats:italic> (former <jats:italic>RIEG<\/jats:italic>) was mapped. To study the natural history and perform a genotype\u2013phenotype correlation, we followed a girl with RS from the age of 1 year to puberty. The study included physical examination, clinical and psychological evaluation, and cytogenetic analysis with GTG\u2010banded karyotype and array CGH. Additionally, molecular analysis using microsatellite markers for chromosome 4 (<jats:italic>D4S427<\/jats:italic>, <jats:italic>D4S194<\/jats:italic> and <jats:italic>D4S1615<\/jats:italic>) was performed. Conventional chromosome analysis showed a 4q deletion, and aCGH confirmed the determination of the breakpoints at 4q25 and 4q31. With the exception of the typical features of RS is the patient, the clinical manifestations were relatively mild, despite the relatively large size of the deleted chromosome segment. The patient was periodically re\u2010evaluated for several years. The teeth are still abnormal, and she is still under orthodontic treatment. The facial features were attenuated with age. Currently, she is under constant monitoring of eye pressure. She benefited from early intervention program, and her tonus is normal. She attends a normal school with minor learning difficulties. In conclusion, this study offers a comprehensive phenotypic delineation of RS through almost two decades and may contribute to a more accurate genetic counseling in cases of this syndrome. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33322","type":"journal-article","created":{"date-parts":[[2010,3,26]],"date-time":"2010-03-26T18:20:06Z","timestamp":1269627606000},"page":"977-981","source":"Crossref","is-referenced-by-count":8,"title":["Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25\u2013q31.1)"],"prefix":"10.1002","volume":"152A","author":[{"given":"Lilia","family":"Moreira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"Schinzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Baumer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F\u00e1tima","family":"G\u00f3es","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria de Lourdes","family":"Falc\u00e3o","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Luiza","family":"Barbosa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariluce","family":"Riegel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,3,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00000647"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/s00431-003-1161-7","article-title":"A new case of an interstitial deletion (4)(q25q27) characterized by molecular cytogenetic techniques and review of the literature","volume":"162","author":"Becker SA","year":"2003","journal-title":"Eur J Pediatr"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.67.8.529"},{"key":"e_1_2_6_5_1","first-page":"46","article-title":"Rieger syndrome and interstitial 4q26 deletion","volume":"3","author":"Fryns JP","year":"1992","journal-title":"Genet Couns"},{"key":"e_1_2_6_6_1","first-page":"60","volume-title":"An International system for human cytogenetic nomenclature","author":"ISCN","year":"2009"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550206"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01042.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.9.628"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.49.10.530"},{"key":"e_1_2_6_11_1","first-page":"613","article-title":"A second locus for Rieger syndrome maps to chromosome 13q14","volume":"59","author":"Phillips JC","year":"1996","journal-title":"Am Hum Genet"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03058.x"},{"key":"e_1_2_6_13_1","first-page":"S30","article-title":"Revision of breakpoints using molecular methods in a series of structural chromosome aberrations with previously determined breakpoints using banding","volume":"17","author":"Riegel M","year":"2009","journal-title":"Chromosome Res"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01853793"},{"key":"e_1_2_6_15_1","first-page":"736","article-title":"Axenfeld\u2013Rieger syndrome: A theory of mechanism and distinctions from the iridocorneal endothelial syndrome","volume":"81","author":"Shields MB","year":"1983","journal-title":"Trans Am Ophthalmol Soc"},{"key":"e_1_2_6_16_1","volume-title":"Catalogue of unbalanced chromosome aberrations in man, 2nd revised and expanded edition","author":"Schinzel A","year":"2001"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.12.1012"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1296-392"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.4.256"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33322","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33322","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:23:28Z","timestamp":1697639008000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33322"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,3,26]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,4]]}},"alternative-id":["10.1002\/ajmg.a.33322"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33322","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,3,26]]}}}