De novo 13q paracentric inversion in a boy with cleft palate and mental retardation.
A paracentric inversion in chromosome 13, inv(13)(q12q22), is described in a boy with mild mental retardation and multiple minor anomalies. Bromodeoxyuridine-late replication studies showed no changes in the replication pattern of bands in the abnormal chromosome 13. The relation between the proband's phenotype and his inv(13) is unclear.
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002901:Chromosomes, Human, 13-15; D002972:Cleft Palate / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male