title: Distal monosomy 14 not associated with ring formation.
abstract: A 12-year-old boy with congenital heart disease, short stature, mildly dysmorphic facies, and mild intellectual impairment was found to have a de novo terminal deletion (14)(q32.3). Although his phenotype resembles that of six reported patients with a similar breakpoint, his CNS involvement is milder. He appears to be the first reported case of a terminal deletion of chromosome 14 not associated with ring 14 formation. Advanced parental ages and maternal origin of the chromosome with the deletion are noted.
mesh_terms: D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008297:Male