<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">von Lowtzow, Catharina</style></author><author><style face="normal" font="default" size="100%">Hofmann, Andrea</style></author><author><style face="normal" font="default" size="100%">Zhang, Rong</style></author><author><style face="normal" font="default" size="100%">Marsch, Florian</style></author><author><style face="normal" font="default" size="100%">Ebert, Anne-Karoline</style></author><author><style face="normal" font="default" size="100%">Rösch, Wolfgang</style></author><author><style face="normal" font="default" size="100%">Stein, Raimund</style></author><author><style face="normal" font="default" size="100%">Boemers, Thomas M</style></author><author><style face="normal" font="default" size="100%">Hirsch, Karin</style></author><author><style face="normal" font="default" size="100%">Marcelis, Carlo</style></author><author><style face="normal" font="default" size="100%">Feitz, Wouter F J</style></author><author><style face="normal" font="default" size="100%">Brusco, Alfredo</style></author><author><style face="normal" font="default" size="100%">Migone, Nicola</style></author><author><style face="normal" font="default" size="100%">Di Grazia, Massimo</style></author><author><style face="normal" font="default" size="100%">Moebus, Susanne</style></author><author><style face="normal" font="default" size="100%">Nöthen, Markus M</style></author><author><style face="normal" font="default" size="100%">Reutter, Heiko</style></author><author><style face="normal" font="default" size="100%">Ludwig, Michael</style></author><author><style face="normal" font="default" size="100%">Draaken, Markus</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">CNV analysis in 169 patients with bladder exstrophy-epispadias complex.</style></title><secondary-title><style face="normal" font="default" size="100%">BMC Med Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">BMC Med. Genet.</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2016</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2016</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">17</style></volume><pages><style face="normal" font="default" size="100%">35</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;BACKGROUND: &lt;/b&gt;The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy number variations (CNVs), including recurrent duplications of chromosomal region 22q11.21, in BEEC etiology.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;To detect further CNVs, array analysis was performed in 169 BEEC patients. Prior to inclusion, 22q11.21 duplications were excluded using multiplex ligation-dependent probe amplification.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;Following the application of stringent filter criteria, seven rare CNVs were identified: n = 4, not present in 1307 in-house controls; n = 3, frequency of &lt;0.002 in controls. These CNVs ranged from 1 to 6.08 Mb in size. To identify smaller CNVs, relaxed filter criteria used in the detection of previously reported BEEC associated chromosomal regions were applied. This resulted in the identification of six additional rare CNVs: n = 4, not present in 1307 in-house controls; n = 2, frequency &lt;0.0008 in controls. These CNVs ranged from 0.03-0.08 Mb in size. For 10 of these 13 CNVs, confirmation and segregation analyses were performed (5 of maternal origin; 5 of paternal origin). Interestingly, one female with classic bladder extrophy carried a 1.18 Mb duplication of 22q11.1, a chromosomal region that is associated with cat eye syndrome.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;A number of rare CNVs were identified in BEEC patients, and these represent candidates for further evaluation. Rare inherited CNVs may constitute modifiers of, or contributors to, multifactorial BEEC phenotypes.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/27138190?dopt=Abstract</style></custom1></record></records></xml>