Trisomy 7p: report of 2 patients and literature review

Genet Couns. 2000;11(4):347-54.

Abstract

Two patients with a trisomy 7p are reported. Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation caused trisomy 7p. Developmental delay was severe in both. Our 2 cases are compared with patients reported in literature.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Chromosomes, Human, Pair 7*
  • Cytogenetic Analysis
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Trisomy*