Cognitive and Behavioral Functioning Among Fraternal Twins with an Unbalanced Translocation of Chromosomes 10q and 12p: A Case Report
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Because neurodevelopmental disorders, such as autism spectrum disorder, intellectual disability, and language disorder, are genetically heterogeneous, there is a need for exploring their many pathways, and case studies provide a means to do so in rare conditions. We present a case study describing fraternal twins with an unbalanced translocation, resulting in a partial trisomy of chromosome 10 (q24.1) and a partial monosomy of chromosome 12 (p13). The twin’s father, a healthy individual with typical development, was found to have a balanced translocation between chromosomes 10q and 12p. Although a handful of cases have described individuals with only trisomies of chromosome 10q or only monosomies of chromosome 12p, none have examined children with both chromosomal aberrations. We describe the children’s cognitive and behavioral phenotype (including autism spectrum disorder, moderate intellectual disability, and language disorder), discuss a possible genetic mechanism contributing to their comorbidities (i.e., 12p13 microdeletions), and review other potential contributing factors to their presentation.
KeywordsChromosome 10q Chromosome 12p Autism spectrum disorder Intellectual disability
We are grateful for the participation of “Elizabeth” and “Edward,” their parents, and their teachers.
Compliance with Ethical Standards
All procedures performed for this case report involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments.
Informed consent was obtained from the parents of the children included in this case report.
Conflict of Interest
The authors declare no conflicts of interest. No authors are U.S. federal government employees.
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