{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:08:11Z","timestamp":1761718091231},"reference-count":25,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2009,4]]},"abstract":"<jats:sec><jats:title>Context<\/jats:title><jats:p>The phenotypic variability of patients with syndromes presenting with dysmorphism makes clinical diagnosis difficult, leading to an exhaustive genetic study to determine the underlying mechanism so that a proper diagnosis could be established.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To genetically characterize siblings, the older sister diagnosed with Albright hereditary osteodystrophy and the younger one with CHARGE syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>Clinical case report.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical, biochemical, and radiological studies were performed on the family. In addition, molecular genetic studies including sequencing of <jats:italic>GNAS<\/jats:italic>, typing of microsatellites on 2q and 21q, and multiplex ligation-dependent probe amplification of subtelomeric regions were performed, as well as confirmatory fluorescent <jats:italic>in situ<\/jats:italic> hybridization analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The genetic analysis revealed that both sisters presented a 2q37 deletion due to the maternal unbalanced segregation of a 2;21 translocation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This is the first report of a 2q37 deletion where differential diagnosis of CHARGE syndrome is needed due to the appearance of choanal atresia.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-08-0865","type":"journal-article","created":{"date-parts":[[2009,3,31]],"date-time":"2009-03-31T00:37:11Z","timestamp":1238459831000},"page":"711-717","update-policy":"http:\/\/dx.doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":8,"title":["Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome"],"prefix":"10.1093","volume":"160","author":[{"given":"Eduardo","family":"Fern\u00e1ndez-Rebollo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Martinez-Bouzas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Carmen","family":"Cotarelo-P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Intza","family":"Garin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose Luis","family":"Ruibal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gustavo","family":"P\u00e9rez-Nanclares","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Casta\u00f1o","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guiomar","family":"P\u00e9rez de Nanclares","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","reference":[{"key":"1_34449297","first-page":"410","volume":"128","year":"2004","journal-title":"AMERICAN JOURNAL OF MEDICAL GENETICS PART A"},{"issue":"5","key":"2_10844445","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1002\/(SICI)1096-8628(19990611)84:5<460::AID-AJMG10>3.0.CO;2-L","volume":"84","author":"Reddy","year":"1999","journal-title":"American journal of medical genetics","ISSN":"http:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"3_34449298","first-page":"331","volume":"130","year":"2004","journal-title":"AMERICAN JOURNAL OF MEDICAL GENETICS PART A"},{"key":"4_23951557","first-page":"922","volume":"30","year":"1942","journal-title":"Endocrinology","ISSN":"http:\/\/id.crossref.org\/issn\/0013-7227","issn-type":"print"},{"key":"6_21396454","first-page":"337","volume":"65","author":"Albright","year":"1952","journal-title":"Transactions of the Association of American Physicians","ISSN":"http:\/\/id.crossref.org\/issn\/0066-9458","issn-type":"print"},{"issue":"2","key":"7_9696715","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1016\/0888-7543(91)90164-A","volume":"11","author":"Levine","year":"1991","journal-title":"Genomics","ISSN":"http:\/\/id.crossref.org\/issn\/0888-7543","issn-type":"print"},{"key":"8_34449299","first-page":"357","volume":"145","year":"2007","journal-title":"AMERICAN JOURNAL OF MEDICAL GENETICS PART C SEMINARS IN MEDICAL GENETICS"},{"issue":"4","key":"9_6062174","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1111\/j.1399-0004.1998.tb02696.x","volume":"53","author":"Viot-Szoboszlai","year":"1998","journal-title":"Clinical genetics","ISSN":"http:\/\/id.crossref.org\/issn\/0009-9163","issn-type":"print"},{"issue":"6","key":"10_28262026","doi-asserted-by":"publisher","first-page":"2370","DOI":"10.1210\/jc.2006-2287","volume":"92","year":"2007","journal-title":"Journal of Clinical Endocrinology &amp; 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