Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype.

作者信息

Park J P, McDermet M K, Doody A M, Marin-Padilla J M, Moeschler J B, Wurster-Hill D H

机构信息

Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756.

出版信息

Am J Med Genet. 1993 Jan 1;45(1):46-8. doi: 10.1002/ajmg.1320450113.

Cases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q and proximal 13q resulting from a familial translocation. This case supports the causal association of duplication 11q with neural tube defects.