Deletion of chromosome 2q37 and autism: a distinct subtype?

Konstantareas et al. (1999) looked at several children with autism who all carried the same rare change: a missing piece of chromosome 2q37. They wrote up each child’s face and body features, behavior, and test scores to see if the deletion might mark a new autism subtype.

No therapy was tried. The paper is simply a careful description meant to alert clinicians.

Every child in the series had both autism and unusual facial or hand features, such as short fingers or a small chin. The authors argue this pattern is distinct enough to earn its own label.

They did not report whether the children got better, worse, or stayed the same.

Mazzone et al. (2012) later followed two children with the same 2q37 deletion and saw their autism scores drop sharply by age eight. That finding extends the 1999 paper by showing the features can fade over time, not stay static.

Poulson (1998) reviewed earlier cases and put the spotlight on chromosomes 15q and the sex chromosomes, not 2q37. The 1999 study therefore adds a new chromosome region to the list C had already summarized.

Green et al. (1986) did something similar a decade earlier, linking other missing chromosome chunks to autism. Konstantareas et al. (1999) repeat that case-series style but zoom in on 2q37 as the specific spot.

If you evaluate a child with autism plus short fingers, wide face, or other minor anomalies, think about a genetics referral. A simple chromosome check can reveal 2q37 deletion, giving families a clearer label and sparing further fishing. Track the child yearly; Luigi’s later work shows some social skills may improve on their own, shaping your goals and counseling.