Familial pericentric inversion of chromosome 2
Mattevi, M.S.; Pinheiro, C.E.; Erdtmann, B.; Flores, R.Z.; Salzano, F.M.
Journal de Genetique Humaine 29(2): 161-169
1981
ISSN/ISBN: 0021-7743 PMID: 7328411 Document Number: 180774
A pericentric inversion of chromosome 2 was detected in eight members of a family ascertained via a proband with congenital jejunal atresia born of consanguineous parents. The latter affection was also present in one of his sibs. Microdensitometric analysis of the patterns of G bands of the inverted segment revealed a balanced rearrangement with unusual break points in p12 and q36; the association with the disease is apparently coincidental.