<?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%">Brunetti-Pierri, Nicola</style></author><author><style face="normal" font="default" size="100%">Berg, Jonathan S</style></author><author><style face="normal" font="default" size="100%">Scaglia, Fernando</style></author><author><style face="normal" font="default" size="100%">Belmont, John</style></author><author><style face="normal" font="default" size="100%">Bacino, Carlos A</style></author><author><style face="normal" font="default" size="100%">Sahoo, Trilochan</style></author><author><style face="normal" font="default" size="100%">Lalani, Seema R</style></author><author><style face="normal" font="default" size="100%">Graham, Brett</style></author><author><style face="normal" font="default" size="100%">Lee, Brendan</style></author><author><style face="normal" font="default" size="100%">Shinawi, Marwan</style></author><author><style face="normal" font="default" size="100%">Shen, Joseph</style></author><author><style face="normal" font="default" size="100%">Kang, Sung-Hae L</style></author><author><style face="normal" font="default" size="100%">Pursley, Amber</style></author><author><style face="normal" font="default" size="100%">Lotze, Timothy</style></author><author><style face="normal" font="default" size="100%">Kennedy, Gail</style></author><author><style face="normal" font="default" size="100%">Lansky-Shafer, Susan</style></author><author><style face="normal" font="default" size="100%">Weaver, Christine</style></author><author><style face="normal" font="default" size="100%">Roeder, Elizabeth R</style></author><author><style face="normal" font="default" size="100%">Grebe, Theresa A</style></author><author><style face="normal" font="default" size="100%">Arnold, Georgianne L</style></author><author><style face="normal" font="default" size="100%">Hutchison, Terry</style></author><author><style face="normal" font="default" size="100%">Reimschisel, Tyler</style></author><author><style face="normal" font="default" size="100%">Amato, Stephen</style></author><author><style face="normal" font="default" size="100%">Geragthy, Michael T</style></author><author><style face="normal" font="default" size="100%">Innis, Jeffrey W</style></author><author><style face="normal" font="default" size="100%">Obersztyn, Ewa</style></author><author><style face="normal" font="default" size="100%">Nowakowska, Beata</style></author><author><style face="normal" font="default" size="100%">Rosengren, Sally S</style></author><author><style face="normal" font="default" size="100%">Bader, Patricia I</style></author><author><style face="normal" font="default" size="100%">Grange, Dorothy K</style></author><author><style face="normal" font="default" size="100%">Naqvi, Sayed</style></author><author><style face="normal" font="default" size="100%">Garnica, Adolfo D</style></author><author><style face="normal" font="default" size="100%">Bernes, Saunder M</style></author><author><style face="normal" font="default" size="100%">Fong, Chin-To</style></author><author><style face="normal" font="default" size="100%">Summers, Anne</style></author><author><style face="normal" font="default" size="100%">Walters, W David</style></author><author><style face="normal" font="default" size="100%">Lupski, James R</style></author><author><style face="normal" font="default" size="100%">Stankiewicz, Pawel</style></author><author><style face="normal" font="default" size="100%">Cheung, Sau Wai</style></author><author><style face="normal" font="default" size="100%">Patel, Ankita</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.</style></title><secondary-title><style face="normal" font="default" size="100%">Nat Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nat. Genet.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Child, Preschool</style></keyword><keyword><style  face="normal" font="default" size="100%">Chromosomes, Human, Pair 1</style></keyword><keyword><style  face="normal" font="default" size="100%">Craniofacial Abnormalities</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Deletion</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Duplication</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mental Disorders</style></keyword><keyword><style  face="normal" font="default" size="100%">Microcephaly</style></keyword><keyword><style  face="normal" font="default" size="100%">Schizophrenia</style></keyword><keyword><style  face="normal" font="default" size="100%">Young Adult</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2008</style></year><pub-dates><date><style  face="normal" font="default" size="100%">12/2008</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">40</style></volume><pages><style face="normal" font="default" size="100%">1466-71</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants (CNVs) in this region have recently been reported in association with congenital heart defects, developmental delay, schizophrenia and related psychoses. We describe 21 probands with the 1q21.1 microdeletion and 15 probands with the 1q21.1 microduplication. These CNVs were inherited in most of the cases in which parental studies were available. Consistent and statistically significant features of microcephaly and macrocephaly were found in individuals with microdeletion and microduplication, respectively. Notably, a paralog of the HYDIN gene located on 16q22.2 and implicated in autosomal recessive hydrocephalus was inserted into the 1q21.1 region during the evolution of Homo sapiens; we found this locus to be deleted or duplicated in the individuals we studied, making it a probable candidate for the head size abnormalities observed. We propose that recurrent reciprocal microdeletions and microduplications within 1q21.1 represent previously unknown genomic disorders characterized by abnormal head size along with a spectrum of developmental delay, neuropsychiatric abnormalities, dysmorphic features and congenital anomalies. These phenotypes are subject to incomplete penetrance and variable expressivity.&lt;/p&gt;
</style></abstract><issue><style face="normal" font="default" size="100%">12</style></issue><custom1><style face="normal" font="default" size="100%">&lt;p&gt;http://www.ncbi.nlm.nih.gov/pubmed/19029900?dopt=Abstract&lt;/p&gt;
</style></custom1></record></records></xml>