Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome
Figure 4
Hair shaft samples under high powered light microscopy. (a) African-American control hair sample, demonstrating evenly distributed pigment in the hairshaft. (b) Hair sample of a previously published severely affected Chediak-Higashi syndrome patient [19], demonstrating an atypical granular distribution of “pigmented clumps” in the hair shaft. (c) Hair sample of our African-American patient with Chediak-Higashi syndrome, demonstrating a similar atypical granular pigmentation pattern as the CHS patient in (b). All images were taken at the same settings using a 40X/1.3 oil objective on an Axiovert200M light microscope.
