Autism & Developmental

Brief report: A case of autism with interstitial deletion of chromosome 13.

Steele et al. (2001) · Journal of autism and developmental disorders 2001
★ The Verdict

One teen shows autism with a never-before-reported gap on chromosome 13q.

✓ Read this if BCBAs whose clients have autism plus unexplained dysmorphic traits.
✗ Skip if Clinicians only interested in treatment data, not genetic curiosities.

01Research in Context

01

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.

02

What they found

The missing stretch lay between 13q14 and 13q22.

No one had linked that exact spot to autism before.

03

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.

04

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.

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Flag any unusual facial, hand, or eye signs in your learner and refer for genetic consult.

02At a glance

Intervention
not applicable
Design
case study
Sample size
1
Population
autism spectrum disorder
Finding
not reported

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