Abstract
Diploid/triploid mosaicism (mixoploidy) is a rare chromosomal abnormality characterized by mental and growth retardation, hypotonia and dysmorphic features such as facial asymmetry, low set ears and syndactyly. Delayed incorporation of polar body or second sperm pronucleus into one blastomere of diploid zygote, and chimaerism with karyotypes from two separate zygotes developing into a single individual are the proposed mechanisms of origin. Sex-specific gonad development is initiated when Sry (sex-determining region of chromosome Y) is expressed in somatic cells of the XY gonad.
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