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.

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


合計: 1

                      


(表示件数)
PMID (PMCID)
18947005
FEMALE
Terminal deletion of chromosome 6q.
Su PH, Chen JY, Chen SJ, Yang KC.
Pediatr Neonatol. 2008;49(3):88-93.
Here, we describe a girl with 6q terminal deletion syndrome and unusually short stature.