Meiotic consequences of pericentric inversions of chromosome 13.
A case is presented demonstrating meiotic consequences of inheritance of a pericentric inversion, inv(13)(p13q21), and suggesting, together with other similar reports reviewed, that certain manifestations (highly arched palate, long philtrum, polydactyly, microphthalmia, and capillary hemangiomata) result from duplication of the distal 13q while others (cleft lip/palate, scalp defects, congenital heart disease) result from duplication of the proximal 13q.
D000328:Adult; D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype