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Familial pericentric inversion of chromosome 8

1981; Wiley; Volume: 10; Issue: 3 Linguagem: Inglês

10.1002/ajmg.1320100305

1096-8628

Eva Sujansky, Ann C. M. Smith, David Peakman, Thomas S. McConnell, Patricia Ramírez Baca, Arthur Robinson, John M. Opitz,

Advanced biosensing and bioanalysis techniques

Abstract Eight children from seven presumably unrelated families were identified independently as having an unbalanced recombinant chromosome resulting in the presence of extra material on the short arm of a chromosome 8. Parental chromosomes were analyzed, and one member of each couple (four fathers and three mothers) was found to carry a pericentric inversion of a chromosome 8 [inv(8)(p23q22)]. The propositi had an unbalanced recombinant chromosome [rec(8),dup q,inv(8)(p23q22)]. The affected infants all had developmental delay, congenital heart disease, and unusual appearance. A common origin of the pericentric inversion was suggested because of geographic location and Mexican—American ancestry of the seven families.