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.
Melnyk
A R
AR
Department of Pediatrics, Loyola University Medical Center, Maywood, Illinois.
Dewald
G
G
D000015:Abnormalities, Multiple / Q000235:genetics; D002898:Chromosomes, Human, Pair 8; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D012303:Ring Chromosomes