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

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Abstract

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.

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Acknowledgments

We are grateful for the participation of “Elizabeth” and “Edward,” their parents, and their teachers.

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Authors and Affiliations

  1. Learning and Development Center, Child Mind Institute, 101 East 56th Street, New York, NY, 10022, USA

    Daryaneh Badaly

  2. Department of Psychiatry, University of Michigan, Ann Arbor, MI, 48105, USA

    Kimberley P. Heinrich, Angela M. Fish & Mohammad Ghaziuddin

  3. Department of Speech and Language Pathology, University of Michigan, Ann Arbor, MI, 48105, USA

    Anna Davis

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  1. Daryaneh Badaly
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Correspondence to Daryaneh Badaly.

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Badaly, D., Heinrich, K.P., Davis, A. et al. Cognitive and Behavioral Functioning Among Fraternal Twins with an Unbalanced Translocation of Chromosomes 10q and 12p: A Case Report. J Dev Phys Disabil 31, 635–651 (2019). https://doi.org/10.1007/s10882-019-09665-5

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