A ring 14 chromosome with deleted short arm.
We report a 46,XX,r(14) karyotype in a female infant having craniofacial dysmorphology, a seizure disorder, and developmental retardation.
D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D002658:Developmental Disabilities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D012640:Seizures / Q000235:genetics; D012886:Skull / Q000002:abnormalities