18p monosomy with midline defects and a de novo satellite identified by FISH

Ann Genet. 1997;40(3):158-63.

Abstract

We report a girl with an 18p deletion and showing a total GH deficiency, a single central maxillary incisor, and a pituitary dysplasia. This suggests that del(18)(p) could be involved in pituitary dysplasia. We review the association between midline developmental defects and chromosome 18 anomalies. This case is due to a de novo satellite resulting from an unbalanced translocation t(18p;13p) identified by FISH. This is the first case of this cytogenetic mechanism in the 18p monosomy.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 18*
  • DNA, Satellite*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Monosomy*
  • Translocation, Genetic

Substances

  • DNA, Satellite