[Language development impairment and trisomy 8 mosaicism]

HNO. 2009 Jul;57(7):685-9. doi: 10.1007/s00106-008-1811-1.
[Article in German]

Abstract

Constitutional trisomy 8 mosaicism (46,XX/47,XX,+8 or 46,XY/47,XY,+8) is characterized by trisomic distribution of chromosomes in some but not all cells of the body. The full condition presents with physical stigmata, skeletal abnormalities and a mild to moderate cognitive impairment.Here we present a boy aged 3 years 10 months with partial trisomy 8 who was referred because of a language impairment. Because of known anomalies (corpus callous agenesis, deformities of the spine) a chromosomal analysis was initiated.This case highlights the necessity for an interdisciplinary diagnostic approach in children with language impairment and other constitutional disorders.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 8 / genetics*
  • Humans
  • Language Disorders / complications*
  • Language Disorders / genetics*
  • Male
  • Myelodysplastic Syndromes / diagnosis*
  • Myelodysplastic Syndromes / genetics*
  • Trisomy / genetics*