Unbalanced X; autosome translocation

Indian J Pediatr. 2006 Sep;73(9):840-2. doi: 10.1007/BF02790399.

Abstract

Unbalanced X; autosome translocation can result in multiple congenital abnormalities/mental retardation syndrome due to chromosomal imbalance. Here is described a patient with developmental delay, microcephaly, agenesis of corpus callosum, spasticity, seizures and dysmorphism as a result of meiotic malsegregation of balanced X; autosome translocation in mother. Present case signifies the importance of chromosomal analysis in a patient with developmental delay/ mental retardation and discuss lyonization in cases with X; autosome translocation.

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum
  • Brain / pathology
  • Child Development*
  • Chromosome Aberrations*
  • Chromosomes, Human, X*
  • Corpus Callosum / pathology
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / pathology
  • Developmental Disabilities / physiopathology
  • Female
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Microcephaly / diagnosis
  • Monosomy
  • Translocation, Genetic*
  • X Chromosome Inactivation