<?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%">Bonaglia, Maria Clara</style></author><author><style face="normal" font="default" size="100%">Kurtas, Nehir Edibe</style></author><author><style face="normal" font="default" size="100%">Errichiello, Edoardo</style></author><author><style face="normal" font="default" size="100%">Bertuzzo, Sara</style></author><author><style face="normal" font="default" size="100%">Beri, Silvana</style></author><author><style face="normal" font="default" size="100%">Mehrjouy, Mana M</style></author><author><style face="normal" font="default" size="100%">Provenzano, Aldesia</style></author><author><style face="normal" font="default" size="100%">Vergani, Debora</style></author><author><style face="normal" font="default" size="100%">Pecile, Vanna</style></author><author><style face="normal" font="default" size="100%">Novara, Francesca</style></author><author><style face="normal" font="default" size="100%">Reho, Paolo</style></author><author><style face="normal" font="default" size="100%">Di Giacomo, Marilena Carmela</style></author><author><style face="normal" font="default" size="100%">Discepoli, Giancarlo</style></author><author><style face="normal" font="default" size="100%">Giorda, Roberto</style></author><author><style face="normal" font="default" size="100%">Aldred, Micheala A</style></author><author><style face="normal" font="default" size="100%">Santos-Rebouças, Cíntia Barros</style></author><author><style face="normal" font="default" size="100%">Goncalves, Andressa Pereira</style></author><author><style face="normal" font="default" size="100%">Abuelo, Diane N</style></author><author><style face="normal" font="default" size="100%">Giglio, Sabrina</style></author><author><style face="normal" font="default" size="100%">Ricca, Ivana</style></author><author><style face="normal" font="default" size="100%">Franchi, Fabrizia</style></author><author><style face="normal" font="default" size="100%">Patsalis, Philippos</style></author><author><style face="normal" font="default" size="100%">Sismani, Carolina</style></author><author><style face="normal" font="default" size="100%">Morí, María Angeles</style></author><author><style face="normal" font="default" size="100%">Nevado, Julián</style></author><author><style face="normal" font="default" size="100%">Tommerup, Niels</style></author><author><style face="normal" font="default" size="100%">Zuffardi, Orsetta</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">De novo unbalanced translocations have a complex history/aetiology.</style></title><secondary-title><style face="normal" font="default" size="100%">Hum Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Hum. Genet.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">DNA End-Joining Repair</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</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%">Meiosis</style></keyword><keyword><style  face="normal" font="default" size="100%">Recombinational DNA Repair</style></keyword><keyword><style  face="normal" font="default" size="100%">Translocation, Genetic</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 Oct</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">137</style></volume><pages><style face="normal" font="default" size="100%">817-829</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;We investigated 52 cases of de novo unbalanced translocations, consisting in a terminally deleted or inverted-duplicated deleted (inv-dup del) 46th chromosome to which the distal portion of another chromosome or its opposite end was transposed. Array CGH, whole-genome sequencing, qPCR, FISH, and trio genotyping were applied. A biparental origin of the deletion and duplication was detected in 6 cases, whereas in 46, both imbalances have the same parental origin. Moreover, the duplicated region was of maternal origin in more than half of the cases, with 25% of them showing two maternal and one paternal haplotype. In all these cases, maternal age was increased. These findings indicate that the primary driver for the occurrence of the de novo unbalanced translocations is a maternal meiotic non-disjunction, followed by partial trisomy rescue of the supernumerary chromosome present in the trisomic zygote. In contrast, asymmetric breakage of a dicentric chromosome, originated either at the meiosis or postzygotically, in which the two resulting chromosomes, one being deleted and the other one inv-dup del, are repaired by telomere capture, appears at the basis of all inv-dup del translocations. Notably, this mechanism also fits with the origin of some simple translocations in which the duplicated region was of paternal origin. In all cases, the signature at the translocation junctions was that of non-homologous end joining (NHEJ) rather than non-allelic homologous recombination (NAHR). Our data imply that there is no risk of recurrence in the following pregnancies for any of the de novo unbalanced translocations we discuss here.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">10</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/30276538?dopt=Abstract</style></custom1></record><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%">Fabretto, Antonella</style></author><author><style face="normal" font="default" size="100%">Santa Rocca, Maria</style></author><author><style face="normal" font="default" size="100%">Perrone, Maria Dolores</style></author><author><style face="normal" font="default" size="100%">Skabar, Aldo</style></author><author><style face="normal" font="default" size="100%">Pecile, Vanna</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.</style></title><secondary-title><style face="normal" font="default" size="100%">Am J Med Genet A</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Am. J. Med. Genet. A</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Abnormalities, Multiple</style></keyword><keyword><style  face="normal" font="default" size="100%">Child, Preschool</style></keyword><keyword><style  face="normal" font="default" size="100%">Chromosome Deletion</style></keyword><keyword><style  face="normal" font="default" size="100%">Chromosomes, Human, Pair 4</style></keyword><keyword><style  face="normal" font="default" size="100%">Developmental Disabilities</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Language Development Disorders</style></keyword><keyword><style  face="normal" font="default" size="100%">Phenotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Deletion</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2012</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2012 Apr</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">158A</style></volume><pages><style face="normal" font="default" size="100%">882-7</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Deletion of the terminal part of long arm of chromosome 4 is a condition characterized by facial dysmorphisms, cardiac and limb defects, and developmental delay. Deletions usually involve the terminal part of the chromosome and most frequently are interstitial. Here, we report a de novo interstitial deletion resulting in a microdeletion of 6.9 Mb involving 4q31.3-q32.1 segment, detected by SNPs-Array technique in a 4-year-old female showing severe speech delay, mild facial dysmorphisms, and joint laxity. Phenotype-genotype relationships looking at the genes involved in this part of the chromosome were also carried out and data compared with those previously described.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">4</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/22407795?dopt=Abstract</style></custom1></record><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%">Faletra, Flavio</style></author><author><style face="normal" font="default" size="100%">d'Adamo, Adamo Pio</style></author><author><style face="normal" font="default" size="100%">Santa Rocca, Maria</style></author><author><style face="normal" font="default" size="100%">Carrozzi, Marco</style></author><author><style face="normal" font="default" size="100%">Perrone, Maria Dolores</style></author><author><style face="normal" font="default" size="100%">Pecile, Vanna</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.</style></title><secondary-title><style face="normal" font="default" size="100%">Am J Med Genet A</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Am. J. Med. Genet. A</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Chromosome Breakpoints</style></keyword><keyword><style  face="normal" font="default" size="100%">Chromosome Duplication</style></keyword><keyword><style  face="normal" font="default" size="100%">Chromosomes, Human, X</style></keyword><keyword><style  face="normal" font="default" size="100%">Hand Deformities, Congenital</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Intellectual Disability</style></keyword><keyword><style  face="normal" font="default" size="100%">Karyotyping</style></keyword><keyword><style  face="normal" font="default" size="100%">Muscle Hypotonia</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Protein Tyrosine Phosphatases</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2012</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2012 Feb</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">158A</style></volume><pages><style face="normal" font="default" size="100%">461-4</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><issue><style face="normal" font="default" size="100%">2</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/22140086?dopt=Abstract</style></custom1></record></records></xml>