6q terminal deletion syndrome

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Psychomotor retardation



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PMID (PMCID)
18947005
FEMALE
Terminal deletion of chromosome 6q.
Su PH, Chen JY, Chen SJ, Yang KC.
Pediatr Neonatol. 2008;49(3):88-93.
Clinical features associated with 6q terminal deletion syndrome include psychomotor retardation, seizures, hypotonia, short neck, and facial abnormalities, as well as various case-specific anomalies.