Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome

Cytogenet Cell Genet. 2000;91(1-4):81-4. doi: 10.1159/000056823.

Abstract

Wolf-Hirschhorn syndrome (WHS) is a multiple malformation syndrome caused by partial monosomy of 4p16.3. Pitt-Rogers-Danks syndrome, first thought to be a distinct entity, is a similar condition associated with a microdeletion overlapping the WHS critical region. In this paper we evaluate three WHS patients showing a microdeletion of 4p and remarkable development with respect to the clinical spectrum of WHS.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology
  • Adolescent
  • Adult
  • Amniocentesis
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 4 / genetics*
  • Diseases in Twins / diagnosis
  • Diseases in Twins / genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Male
  • Maternal Age
  • Polymorphism, Genetic
  • Pregnancy, High-Risk
  • Syndrome
  • Ultrasonography, Prenatal