Partial tetrasomy of chromosome 3q and mosaicism in a child with autism

Journal of Autism and Developmental Disorders
Guiomar OliveiraIsabel Carreira

Abstract

In this report we describe the case of an 11-year-old male with autism and mental retardation, presenting a tetrasomy of chromosome 3q. Cytogenetic analysis showed a mosaic for an unbalanced karyotype consisting of mos46,XY,add(12)(p13.3)(56)/46,XY(45). FISH using WCP and subtelomeric probes identified the extra material on 12p to be an inverted duplication of the distal segment of chromosome 3q. Anomalies in chromosome 3q have not been previously described in association with autism, although association with psychomotor delays and behavior problems has been frequently reported and are here further discussed. This chromosomal 3q segment is therefore likely to include genes involved in specific neurodevelopment pathways, and further analysis of the region is warranted for the identification of the molecular alterations that lead to the autistic features described.

Citations

Sep 5, 2019·Frontiers in Cellular Neuroscience·Lauren Rylaarsdam, Alicia Guemez-Gamboa
Oct 24, 2018·Nature Neuroscience·Alissa M D'Gama, Christopher A Walsh
Jan 25, 2005·American Journal of Medical Genetics. Part a·Maria Teresa BonatiLidia Larizza

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