Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization

Am J Med Genet. 1998 Feb 3;75(4):409-13.

Abstract

We report on a patient with a de novo translocation between the long arms of chromosomes 14 and 18. The translocation was studied using microdissection in combination with fluorescence in situ hybridization (micro-FISH). Five copies of the chromosomes involved in the translocation were isolated by microdissection and amplified by means of degenerate oligonucleotide primed-polymerase chain reaction (DOP-PCR). Reverse chromosome painting with the biotin-labeled PCR product showed that part of the q-arm of chromosome 18 had no signal. The deletion was characterized further by FISH with band-specific probes and it was concluded that the rearrangement was unbalanced: 46,XY,t(14;18)(14pter-->14q22::18q21.1-->18qter) (18pter-->18q12.2::14q22-->14qter). The patient, who presented with psychomotor retardation, mild obesity, pes equinovarus, strabismus, and facial anomalies, is compared with previously reported patients with an interstitial deletion of band 18q12.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 14 / genetics*
  • Chromosomes, Human, Pair 18 / genetics*
  • DNA Probes
  • Gene Deletion
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Translocation, Genetic / genetics*

Substances

  • DNA Probes