Detection of a 46,XX,der(3)t(3;4)(p25;p16.1) by using chromosome microdissection

Genet Couns. 1998;9(4):259-64.

Abstract

We performed chromosome microdissection in order to define the "de novo" rearrangement observed in a female patient affected by: frontal microgyria, mild psychomotor retardation, thoracic scoliosis, XIIth rib asymmetry and facial dysmorphisms. Through the use of the micro-FISH we evidenced a deletion of the 3p25pter region and a 4p16.1 duplication. We performed a karyotype-phenotype correlation in our patient and in the ones previously reported in literature which had a 3p25pter deletion or the 4p16 duplication.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 3*
  • Craniofacial Abnormalities / genetics*
  • Female
  • Gene Rearrangement / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics*
  • Phenotype
  • Physical Chromosome Mapping*
  • Syndrome