Table 1

Patient characteristics

Patient no.Age, yNationalityClinical featuresHematologyChromosome fragilitySensitivity to MMCG2/M blockReference
MD1 11 United States Visual impairment, hypotonia, areflexia, absent language, epilepsy, microsomy, and microcephaly Normal Negative Mild Mild 13  
MD2 France Hypotonia, severe developmental delay; rod–cone dystrophy, epilepsy, and autistic features Normal Negative Mild Mild 12  
MD3 France Severe developmental delay, visual impairment, microsomy, and microcephaly Normal Negative ND ND Present study 
MD4 France Severe developmental delay, absent language, visual impairment, microsomy, and microcephaly Normal Negative ND ND Present study 
Patient no.Age, yNationalityClinical featuresHematologyChromosome fragilitySensitivity to MMCG2/M blockReference
MD1 11 United States Visual impairment, hypotonia, areflexia, absent language, epilepsy, microsomy, and microcephaly Normal Negative Mild Mild 13  
MD2 France Hypotonia, severe developmental delay; rod–cone dystrophy, epilepsy, and autistic features Normal Negative Mild Mild 12  
MD3 France Severe developmental delay, visual impairment, microsomy, and microcephaly Normal Negative ND ND Present study 
MD4 France Severe developmental delay, absent language, visual impairment, microsomy, and microcephaly Normal Negative ND ND Present study 

MMC indicates mitomycin C; and MD, microdeletion.

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