Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p

Genet Couns. 1993;4(1):37-41.

Abstract

In this report we present a female newborn with Wiedemann-Beckwith syndrome and duplication 4q/deficiency 18p as the result of an unbalanced paternal 4q/18p translocation: karyotype: 46,XY,t(4;18)(q34.2;p11.32). The different mechanisms resulting in prenatal overgrowth and Wiedemann-Beckwith syndrome phenotype are reviewed. The suggestion is made that contiguous gene duplications/deletions other than those located in the 11p15 region may exist.

Publication types

  • Case Reports

MeSH terms

  • Beckwith-Wiedemann Syndrome / diagnosis
  • Beckwith-Wiedemann Syndrome / genetics*
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 18*
  • Chromosomes, Human, Pair 4*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Phenotype