A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome

Achandira M. Udayakumar*, Adila Al-Kindy

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech and mental retardation are a few of the commonest features observed. The cytogenetic findings also vary and may comprise a pure deletion of the entire 18p arm or a deletion of a part of the 18p arm, if involved in a translocation with other chromosomes. Monosomy 18p may either occur by itself or with a structural alteration of the remaining chromosome 18, as a ring or as an isochromosome. The clinical presentation of this syndrome often overlaps with other syndromes. Establishing a cytogenetic diagnosis and understanding the location of the breakpoints is crucial for precise management and follow-up. We present here a rare case with mosaicism for a de novo deletion of 18p with isochromosome 18q in a boy born to a consanguineous Omani couple.

Original languageEnglish
Pages (from-to)141-146
Number of pages6
JournalJournal of Pediatric Genetics
Volume2
Issue number3
DOIs
Publication statusPublished - 2013
Externally publishedYes

Keywords

  • 18p- syndrome
  • De Grouchy syndrome
  • Monosomy 18p syndrome
  • Mosaic 18p-/i(18q) syndrome
  • Trisomy 18q syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

Cite this