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The Indian Journal of Pediatrics

, Volume 73, Issue 9, pp 840–842 | Cite as

Unbalanced X; autosome translocation

  • Neerja Gupta
  • Himanshu Goel
  • Shubha R. PhadkeEmail author
Clinical Brief

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.

Key words

autosome translocation Monosomy 14q11.2 Monosomy Xq28 Mental retardation 

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Copyright information

© Dr. K C Chaudhuri Foundation 2006

Authors and Affiliations

  • Neerja Gupta
    • 1
  • Himanshu Goel
    • 1
  • Shubha R. Phadke
    • 1
  1. 1.Department of Medical GeneticsSanjay Gandhi Postgraduate Institute of Medical SciencesLucknow

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