Females with 48,XXXX (tetra-X) may show a wide spectrum of physical and mental findings. Some patients appear normal.
Frequency: very rare
Factors that may impact the patient's phenotype:
(1) multi-X mosaicism
(2) presence of other genetic abnormalities
The most common findings include some degree of intellectual deficiency and/or psychiatric disorder. These may progress over time.
Clinical findings may include:
(1) variable hypertelorism
(2) variable epicanthal folds
(3) variable oral and dental abnormalities
(4) variable primary ovarian failure
(5) variable tall stature
