Molecular characterization of a patient with 3p deletion syndrome and a review of the literature
Fernandez TV, García‐González I, Mason CE, Hernández‐Zaragoza G, Ledezma‐Rodríguez V, Anguiano‐Alvarez V, E'Vega R, Gutiérrez‐Angulo M, Maya ML, García‐Bejarano H, González‐Cruz M, Barrios S, Atorga R, López‐Cardona M, Armendariz‐Borunda J, State MW, Dávalos NO. Molecular characterization of a patient with 3p deletion syndrome and a review of the literature. American Journal Of Medical Genetics Part A 2008, 146A: 2746-2752. PMID: 18837054, DOI: 10.1002/ajmg.a.32533.Peer-Reviewed Original ResearchMeSH KeywordsChild, PreschoolChromosome DeletionChromosome DisordersChromosomes, Human, Pair 13Chromosomes, Human, Pair 3Comparative Genomic HybridizationCraniofacial AbnormalitiesDevelopmental DisabilitiesFemaleHumansIn Situ Hybridization, FluorescenceKaryotypingLimb Deformities, CongenitalMalePhenotypeSyndromeTranslocation, GeneticConceptsDeletion syndromeDysmorphic physical featuresArray-based comparative genomic hybridizationChild patientsRare disorderNovo unbalanced translocationGrowth retardationSyndromeDevelopmental delayRoutine cytogenetic analysisUnbalanced abnormalitiesComparative genomic hybridizationChromosome 3p26Unbalanced translocationPatientsChromosome 3pMb deletionCytogenetic analysisDisordersRare chromosomal rearrangementsSitu hybridizationGenomic hybridizationMb terminal deletionTerminal deletion