Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation

Am J Med Genet A. 2004 Aug 30;129A(2):180-3. doi: 10.1002/ajmg.a.30224.

Abstract

We present clinical and cytogenetic data on a family with a t(4;13)(p16;q11) translocation present in four generations. The balanced translocation resulted in one individual with monosomy 4p and one individual with trisomy 4p, due to 3:1 segregation. The male patient with trisomy 4p was fertile and transmitted the extra chromosome to his daughter.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child, Preschool
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Disorders / genetics*
  • Chromosome Segregation / genetics
  • Chromosomes, Human, Pair 4 / genetics*
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Pedigree
  • Syndrome
  • Translocation, Genetic / genetics*
  • Trisomy / genetics*