Patient characteristics
Patient no. . | Age, y . | Nationality . | Clinical features . | Hematology . | Chromosome fragility . | Sensitivity to MMC . | G2/M block . | Reference . |
---|---|---|---|---|---|---|---|---|
MD1 | 11 | United States | Visual impairment, hypotonia, areflexia, absent language, epilepsy, microsomy, and microcephaly | Normal | Negative | Mild | Mild | 13 |
MD2 | 6 | France | Hypotonia, severe developmental delay; rod–cone dystrophy, epilepsy, and autistic features | Normal | Negative | Mild | Mild | 12 |
MD3 | 1 | France | Severe developmental delay, visual impairment, microsomy, and microcephaly | Normal | Negative | ND | ND | Present study |
MD4 | 3 | France | Severe developmental delay, absent language, visual impairment, microsomy, and microcephaly | Normal | Negative | ND | ND | Present study |
Patient no. . | Age, y . | Nationality . | Clinical features . | Hematology . | Chromosome fragility . | Sensitivity to MMC . | G2/M block . | Reference . |
---|---|---|---|---|---|---|---|---|
MD1 | 11 | United States | Visual impairment, hypotonia, areflexia, absent language, epilepsy, microsomy, and microcephaly | Normal | Negative | Mild | Mild | 13 |
MD2 | 6 | France | Hypotonia, severe developmental delay; rod–cone dystrophy, epilepsy, and autistic features | Normal | Negative | Mild | Mild | 12 |
MD3 | 1 | France | Severe developmental delay, visual impairment, microsomy, and microcephaly | Normal | Negative | ND | ND | Present study |
MD4 | 3 | France | Severe developmental delay, absent language, visual impairment, microsomy, and microcephaly | Normal | Negative | ND | ND | Present study |
MMC indicates mitomycin C; and MD, microdeletion.