• A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures
• A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1
• A report of a patient with duplication of 7p13-->pter and deletion of 2p23-->pter due to a maternal 2p;7p translocation
• A report of a patient with duplication of 7p13-->pter and deletion of 2p23-->pter due to a maternal 2p;7p translocation
• An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome
• Array comparative genome hybridization analysis of acute lymphoblastic leukaemia and acute megakaryoblastic leukaemia in patients with Down syndrome
• Cardiac transplantation in children with Down syndrome, Turner syndrome, and other chromosomal anomalies: A multi-institutional outcomes analysis
• Clinical characteristics of HNF1B-related disorders in a Japanese population
• Contiguous gene deletion of chromosome 2p16.3-p21 as a cause of Lynch syndrome
• Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter
• Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf-Hirschhorn syndrome
• Effect of Genotype and Previous GH Treatment on Adiposity in Adults With Prader-Willi Syndrome
• Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN
• First Case Report of Prader-Willi-Like Syndrome in Colombia
• Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1
• Genetic Alterations in Essential Thrombocythemia Progression to Acute Myeloid Leukemia: A Case Series and Review of the Literature
• Integrative study of EZH2 mutational status, copy number, protein expression and H3K27 trimethylation in AML/MDS patients
• Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry
• New data shed light on Y-loss-related pathogenesis in myelodysplastic syndromes
• Partial monosomy 2p and partial trisomy 4q due to paternal translocation t(2;4)(p25.1;q31.3)
• Pure trisomy 2p syndrome in two siblings with an unbalanced translocation and minimal terminal 12q monosomy characterized by high-density microarray
• Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter
• Striatal dopaminergic alterations in individuals with copy number variants at the 22q11.2 genetic locus and their implications for psychosis risk: a [18F]-DOPA PET study
• The impact of TP53 mutations and TP53 deletions on survival varies between AML, ALL, MDS and CLL: an analysis of 3307 cases
• The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature
• TP53 mutation variant allele frequency is a potential predictor for clinical outcome of patients with lower-risk myelodysplastic syndromes