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


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