| Literature DB >> 7211949 |
R J Strobel, V M Riccardi, D H Ledbetter, H M Hittner.
Abstract
An infant with macular dysfunction, cleft lip and palate, and developmental delay was shown to have an inverted duplication of 11p11.3 leads to p14.1 on the basis of meiotic recombination subsequent to an intrachromosomal "shift" in his mother. A half-sister had previously been shown [3] to have the reciprocal recombinant with resultant deletion of 11p11.3 leads to 11p14.1.Entities:
Mesh:
Year: 1980 PMID: 7211949 DOI: 10.1002/ajmg.1320070105
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299