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A case of ring 14 chromosome syndrome, confirmed by chromosome study, was dis¡ⓒ cribed. She was 15 months old and manifestated facial abnormalities containing micro¡ⓒ cephaly, flat occiput, hyperterrorism and psychomotor retardation, intractable seizure.
Chromosomal study showed the ring 14 chromosome, karyotypic ally she was depicted 46, XY, r(14).
A brief review of all literature was also presented. |
