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  • Title: Dysmyelination of the cerebral white matter with microdeletion at 6p25.
    Author: Kapoor S, Mukherjee SB, Shroff D, Arora R.
    Journal: Indian Pediatr; 2011 Sep; 48(9):727-9. PubMed ID: 21992905.
    Abstract:
    A 6 year old boy presented with mental retardation, hypotonia, abnormal facies, impaired hearing, protuberant eyes, visual impairment, short stature, Axenfeld-Rieger anomaly, a bicuspid aortic valve, and bilateral sensorineural deafness. CT scan of head suggested dysmyelination of the subcortical and periventricular white matter. FISH revealed a subtelomeric microdeletion encompassing both FOXC1 and FOXF2 loci within 6p25. Dysmyelination of the central nervous system has been infrequently described earlier in patients with 6p25 deletion.
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