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

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / genetics
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 13*
  • Female
  • Fetal Diseases / diagnostic imaging
  • Fetal Diseases / genetics*
  • Humans
  • Karyotyping
  • Male
  • Multigene Family*
  • Neural Tube Defects / diagnostic imaging
  • Neural Tube Defects / embryology
  • Neural Tube Defects / genetics
  • Phenotype
  • Pregnancy
  • Translocation, Genetic*
  • Ultrasonography, Prenatal