Tetraploid-diploid mosaicism in humans is exceedingly rare. We present an 11-year-old boy with tetraploid-diploid mosaicism and coexistent hair hypopigmentation with skin hypo- and hyperpigmentation. This case expands the current literature as we are not aware of previous documentation of this unique combination of pigmentary anomalies.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771914PMC
http://dx.doi.org/10.1002/ccr3.1114DOI Listing

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