Terminal 2q deletion and partial trisomy chromosome 15q: a clinical and cytogenetic study

Genet Couns. 2014;25(2):151-8.


We report on a 5 years old female patient with a karyotype 46, XX, add (2), t(2;15) (q37;q22) associated with dysmorphic facial features, digital deformities, heart defect (mild mitral regurge) and severe mental retardation. This is the third reported case worldwide on the terminal 2q deletion and trisomy of chromosome 15q syndrome. The findings in this case and our literature review, delineates the pattern of malformations secondary to trisomy of 15q and deletion of 2q.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 15 / genetics
  • Chromosomes, Human, Pair 2 / genetics
  • Female
  • Humans
  • Karyotyping
  • Syndrome
  • Trisomy / genetics*
  • Trisomy / pathology
  • Trisomy / physiopathology

Supplementary concepts

  • Chromosome 15q, trisomy
  • Chromosome 2, monosomy 2q