<?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%">Kaliakatsos, Marios</style></author><author><style face="normal" font="default" size="100%">Giannakopoulos, Aristeidis</style></author><author><style face="normal" font="default" size="100%">Fryssira, Helena</style></author><author><style face="normal" font="default" size="100%">Kanariou, Maria</style></author><author><style face="normal" font="default" size="100%">Skiathitou, Anna-Venetia</style></author><author><style face="normal" font="default" size="100%">Tania Siahanidou</style></author><author><style face="normal" font="default" size="100%">Giannikou, Krinio</style></author><author><style face="normal" font="default" size="100%">Makrythanasis, Periklis</style></author><author><style face="normal" font="default" size="100%">Kanavakis, Emmanuel</style></author><author><style face="normal" font="default" size="100%">Tzetis, Maria</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.</style></title><secondary-title><style face="normal" font="default" size="100%">J Hum Genet</style></secondary-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">CHARGE Syndrome</style></keyword><keyword><style  face="normal" font="default" size="100%">Comparative Genomic Hybridization</style></keyword><keyword><style  face="normal" font="default" size="100%">DiGeorge Syndrome</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Helicases</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA-Binding Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Fatal Outcome</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Phenotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Deletion</style></keyword><keyword><style  face="normal" font="default" size="100%">Severe Combined Immunodeficiency</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2010</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2010 Nov</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">55</style></volume><pages><style face="normal" font="default" size="100%">761-3</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">Phenotypic variation in CHARGE syndrome remains unexplained. A subcategory of CHARGE patients show overlapping phenotypic characteristics with DiGeorge syndrome (thymic hypo/aplasia, hypocalcemia, T-cell immunodeficiency). Very few have been tested or reported to carry a mutation of the CHD7 (chromodomain helicase DNA-binding domain) gene detected in two-thirds of CHARGE patients. In an attempt to explore the genetic background of a severe CHARGE/DiGeorge phenotype, we performed comparative genomic array hybridization in an infant carrier of a CHD7 mutation. The high-resolution comparative genomic array hybridization revealed interesting findings, including a deletion distal to the DiGeorge region and disruptions in other chromosomal regions of genes implicated in immunological and other functions possibly contributing to the patient’s severe phenotype and early death.</style></abstract></record></records></xml>