{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T00:41:49Z","timestamp":1785804109902,"version":"3.56.0"},"reference-count":30,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>Cryptic deletions in balanced de novo translocations represent a frequent cause of abnormal phenotypes, including Mendelian diseases. In this study, we describe a patient with multiple congenital abnormalities, such as late-onset congenital adrenal hyperplasia (CAH), primary ovarian failure and Ehlers-Danlos syndrome (EDS), who carries a de novo t(6;14)(p21;q32) translocation. Genomic array analysis identified a cryptic 1.1-Mb heterozygous deletion, adjacent to the breakpoint on chromosome 6, extending from 6p21.33 to 6p21.32 and affecting 85 genes, including &lt;i&gt;CYP21A2,&lt;\/i&gt;&lt;i&gt;TNXB&lt;\/i&gt; and &lt;i&gt;MSH5&lt;\/i&gt;. Multiplex ligation-dependent probe amplification analysis of the 6p21.3 region was performed in the patient and her family and revealed a 30-kb deletion in the patient's normal chromosome 6, inherited from her mother, resulting in homozygous loss of genes &lt;i&gt;CYP21A1P&lt;\/i&gt; and &lt;i&gt;C4B&lt;\/i&gt;. &lt;i&gt;CYP21A2 &lt;\/i&gt;sequencing showed that its promoter region was not affected by the 30-kb deletion, suggesting that the deletion of other regulatory sequences in the normal chromosome 6 caused a loss of function of the &lt;i&gt;CYP21A2&lt;\/i&gt; gene. EDS and primary ovarian failure phenotypes could be explained by the loss of genes &lt;i&gt;TNXB&lt;\/i&gt; and &lt;i&gt;MSH5&lt;\/i&gt;, a finding that may contribute to the characterization of disease-causing genes. The detection of this de novo microdeletion drastically reduced the estimated recurrence risk for CAH in the family.<\/jats:p>","DOI":"10.1159\/000363779","type":"journal-article","created":{"date-parts":[[2014,6,26]],"date-time":"2014-06-26T09:59:59Z","timestamp":1403776799000},"page":"139-145","source":"Crossref","is-referenced-by-count":4,"title":["Congenital Adrenal Hyperplasia, Ovarian Failure and Ehlers-Danlos Syndrome due to a 6p Deletion"],"prefix":"10.1159","volume":"8","author":[{"given":"Mariana","family":"Moys\u00e9s-Oliveira","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiane I.","family":"Mancini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia S.","family":"Takeno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andressa D.S.","family":"Rodrigues","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania A.S.S.","family":"Bachega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debora","family":"Bertola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Isabel","family":"Melaragno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2014,6,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2163"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.02.012"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1159\/000328135"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2001-011939"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.6.391"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-104"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33092"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2010.03871.x"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.3.169"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.09.031"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.052787"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/5075"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01854.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024141"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5374"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32510"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.85.12.7018"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01341.x"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010049"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-07-0400"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33302"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa002939"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.05.011"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-1-15"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2631"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(02)02592-1"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1324724"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.53.38097"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.04.036"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1086\/376564"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/363779","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/363779","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:51:46Z","timestamp":1745430706000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000363779"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":30,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2014,8,1]]},"published-print":{"date-parts":[[2014,8,12]]}},"URL":"https:\/\/doi.org\/10.1159\/000363779","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5126695","asserted-by":"subject"}]},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"value":"1661-5425","type":"print"},{"value":"1661-5433","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}