| Main clinical features
|
mental retardation and variable facial dysmorphic features and other clinical problems depending on the size and position of the duplication
NR0B1 duplication in 46,XY individuals leads to gonadal dysgenesis and a female phenotype
obesity and macrocephaly in dupXp11.3p21.1
SAT duplication leads to dermatological disorders (KFSD or Siemens-1 syndrome)
in females, skewed X-inactivation resulting in inactivation of the dup(X) may result in a normal or near-normal phenotype
functional disomy of proximal Xp allows delineation of a common phenotype comprising early hypotonia, cognitive impairment, hypertelorism, myopia, small hands and feet and abnormal external ears |