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Revision as of 21:32, 10 May 2021
49,XYYYY syndrome is a rare Y chromosomal number intersex CTM/DMAB variation with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set ‘lop’ ears, and micrognatia.[1]