Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.
A single teen with autism and severe self-bite carries a newly spotted chromosome mix that may explain the behavior.
01Research in Context
What this study did
Doctors looked at one teenage boy with autism, severe self-biting, and slow development.
They ran a full chromosome test and found a never-before-seen mix: extra DNA from the tip of chromosome 3 and missing DNA from the tip of chromosome 10.
The report simply maps the broken chromosomes; no therapy was tested.
What they found
The odd swap gives the boy a rare “3q28qter duplication plus 10q26.2qter deletion.”
Clinicians now list this pattern as a possible cause for hard-to-treat self-injury in autism.
How this fits with other research
Fullana et al. (2007) saw autism plus delay in a girl who had extra DNA on chromosome 15q11-q13. Both single-case studies use chromosome maps, not interventions, to explain severe behavior.
Castermans et al. (2004) review argues balanced swaps are the best clues for finding autism genes. Osei-Owusu’s case shows unbalanced swaps can be just as revealing, updating the hunt.
Konstantareas et al. (1999) proposed 2q37 deletion as its own autism subtype. The new 3q/10q pattern may carve out another rare subtype marked by self-biting, extending the catalog.
Why it matters
If a client shows autism, global delay, and relentless self-injury that standard behavior plans barely touch, ask the medical team for a genetics consult. A chromosome array could uncover this same rare swap, giving families a reason and guiding future drug or behavioral targets.
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02At a glance
03Original abstract
Chromosomal structural variation can cause severe neurodevelopmental and neuropsychiatric phenotypes. Here we present a nonverbal female adolescent with severe stereotypic movement disorder with severe problem behavior (e.g., self-injurious behavior, aggression, and disruptive and destructive behaviors), autism spectrum disorder, severe intellectual disability, attention deficit hyperactivity disorder, and global developmental delay. Previous cytogenetic analysis revealed balanced translocations present in the patient's apparently normal mother. We hypothesized the presence of unbalanced translocations in the patient due to maternal history of spontaneous abortions. Whole-genome sequencing and whole-genome optical mapping, complementary next-generation genomic technologies capable of the accurate and robust detection of structural variants, identified t(3;10), t(10;14), and t(3;14) three-way balanced translocations in the mother and der(10)t(3;14;10) and der(14)t(3;14;10) translocations in the patient. Instead of a t(3;10), she inherited a normal maternal copy of Chromosome 3, resulting in an unbalanced state of a 3q28qter duplication and 10q26.2qter deletion. Copy-imbalanced genes in one or both of these regions, such as DLG1, DOCK1, and EBF3, may contribute to the patient's phenotype that spans neurodevelopmental, musculoskeletal, and psychiatric domains, with the possible contribution of a maternally inherited 15q13.2q13.3 deletion.
Cold Spring Harbor Molecular Case Studies, 2020 · doi:10.1101/mcs.a005884