Cognitive and Behavioral Functioning Among Fraternal Twins with an Unbalanced Translocation of Chromosomes 10q and 12p: A Case Report

摘要: Because neurodevelopmental disorders, such as autism spectrum disorder, intellectual disability, and language are genetically heterogeneous, there is a need for exploring their many pathways, case studies provide means to do so in rare conditions. We present study describing fraternal twins with an unbalanced translocation, resulting partial trisomy of chromosome 10 (q24.1) monosomy 12 (p13). The twin’s father, healthy individual typical development, was found have balanced translocation between chromosomes 10q 12p. Although handful cases described individuals only trisomies or monosomies 12p, none examined children both chromosomal aberrations. describe the children’s cognitive behavioral phenotype (including moderate disorder), discuss possible genetic mechanism contributing comorbidities (i.e., 12p13 microdeletions), review other potential factors presentation.