Brief report: A case of autism with interstitial deletion of chromosome 13.
One teen shows autism with a never-before-reported gap on chromosome 13q.
01Research in Context
What this study did
Doctors looked at one young man with autism.
They found a missing piece on his chromosome 13.
The report simply notes the deletion; no therapy was tested.
What they found
The missing stretch lay between 13q14 and 13q22.
No one had linked that exact spot to autism before.
How this fits with other research
Green et al. (1986) first said, "Check chromosomes in autism plus ID."
Richman et al. (2001) now adds 13q to the list of spots to watch.
Mazzone et al. (2012) extends the story: kids with 2q37 deletion can get better by school age.
Same cytogenetic idea, but very different outlook—one spot stays severe, another eases up.
Why it matters
If your client has autism and odd facial or hand features, ask the doctor about a chromosome test.
Finding 13q loss won’t change ABA targets today, yet it gives families a why and alerts them to eye or heart checks tied to that region.
Want CEUs on This Topic?
The ABA Clubhouse has 60+ free CEUs — live every Wednesday. Ethics, supervision & clinical topics.
Join Free →Flag any unusual facial, hand, or eye signs in your learner and refer for genetic consult.
02At a glance
03Original abstract
A case of an 18-year-old male who meets the DSM-IV criteria for autistic disorder and borderline intelligence is described. Cytogenetic evaluation revealed a karyotype of 46, XY, del(13)(q14q22). The relevance of this case to the etiology of autism is discussed.
Journal of autism and developmental disorders, 2001 · doi:10.1023/a:1010759401344