Familial pericentric inversion of chromosome 2.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D007446:Chromosome Inversion; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D003241:Consanguinity; D006801:Humans; D007223:Infant; D007579:Jejunal Diseases / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype