A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype

Ann Genet. 1993;36(4):217-20.

Abstract

A patient with a de novo duplication of 7pter-->7p12 and deletion of distal 10p resulting from an unbalanced translocation is described. The patient's phenotype demonstrates features associated with other reported cases with similar imbalances which include hypertelorism, Dandy-Walker malformations, ventricular septal defect, bilateral cleft lip and palate, abnormal hand positions and clubbed feet, hypospadias, and imperforate anus.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 10*
  • Chromosomes, Human, Pair 7*
  • Dandy-Walker Syndrome
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Multigene Family*
  • Phenotype
  • Translocation, Genetic*