Figure 1
From: Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
Clinical characteristics of the patient. (A) A family tree. Samples from individuals I-5, I-6, II-2, II-3, and III-1 were collected. (B) T2-weighted MR imaging showed diffuse atrophy of the cerebrum and delayed myelination in the splenium of the corpus callosum. (C) MR angiography showing intracranial tortuous arteries characteristic of Menkes disease.
