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Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual features.


ABSTRACT:

Key clinical message

We report on a patient with distal trisomy 10q syndrome presenting with a few previously undescribed physical features, as well as, autism spectrum disorder (ASD). We recommend that patients with distal trisomy 10q syndrome should have a behavioral evaluation for ASD for the early institution of therapy.

SUBMITTER: Al-Sarraj Y 

PROVIDER: S-EPMC4302626 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature