Systematic screening for subtelomeric anomalies in a clinical sample of autism.
Subtelomere FISH adds nothing after a normal karyotype in autism evaluations.
01Research in Context
What this study did
Doctors checked 104 people with autism for tiny chromosome end-pieces. They used a test called subtelomere FISH.
Everyone already had normal chromosome pictures. The team wanted to see if the extra test found anything new.
What they found
The extra test found zero new problems. Nothing showed up that the first pictures missed.
The authors say subtelomere FISH is not worth adding to routine autism work-ups.
How this fits with other research
Duerden et al. (2012) and Al-Mamari et al. (2015) later used a newer test called chromosomal microarray. They found problems in about one of every four patients.
Those newer papers make the 2007 zero-result look outdated. The field has moved from FISH to microarray.
Older papers like Gaily et al. (1998) and Estécio et al. (2002) still found a few odd chromosomes with basic pictures. They set the stage for asking if subtelomere views would catch more, but the answer was no.
Why it matters
If you sit in autism diagnostic meetings, you can now skip the subtelomere FISH order. Save the money and the family’s time. If you want genetic answers, ask for chromosomal microarray first. That one test gives the best shot at finding a cause.
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02At a glance
03Original abstract
High-resolution karyotyping detects cytogenetic anomalies in 5-10% of cases of autism. Karyotyping, however, may fail to detect abnormalities of chromosome subtelomeres, which are gene rich regions prone to anomalies. We assessed whether panels of FISH probes targeted for subtelomeres could detect abnormalities beyond those identified by karyotyping in 104 individuals with Pervasive Developmental Disorders (PDDs) drawn from a general clinical population. Four anomalies were detected by karyotyping, while no additional anomalies were detected by subtelomere FISH or by probes targeted for 15q11.2q13 or 22q11.2 in subgroups of our sample. We conclude that while karyotyping may be more broadly indicated for autism than previously supposed, subtelomere FISH appears less likely to be a useful screening tool for unselected PDD populations.
Journal of autism and developmental disorders, 2007 · doi:10.1007/s10803-006-0196-9