Duplication-deletion syndrome in a family with pericentric inversion of chromosome 6.
A case of trisomy for a portion of the long arm of chromosome 6, secondary to recombination of a maternal pericentric inversion, is presented. The pericentric inversion was documented in three generations of a family with a number of spontaneous abortions and periinatal deaths.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007223:Infant; D010375:Pedigree; D011995:Recombination, Genetic; D014314:Trisomy