Identification of a small supernumerary ring chromosome 8 by fluorescent in situ hybridization in a child with developmental delay and minor anomalies.

We report a 15-month-old female with developmental delay, hypotonia, and minor anomalies whose karyotype is 47,XX,+r. Due to its small size, the origin of the ring chromosome was indeterminate by standard G-banded karyotyping. Fluorescent in situ hybridization was performed, which indicated that the ring chromosome was derived from the pericentric region of chromosome 8.