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


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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  1. 1.
    Sharp AJ, Spotswood HT, Robinson DO, Turner BM, Jacobs PA. Molecular cytogenetic analysis of the spreading of X inactivation in X; autosome translocations.Hum Mol Gen 2002; 11: 3145–3156.PubMedCrossRefGoogle Scholar
  2. 2.
    Hall LL, Christine MC, Bryon M, Wydner K, Lawrence JB. Unbalanced X; autosome translocations provide evidence for sequence specificity in the association of XIST RNA chromatin.Hum Mol Gen 2002; 11: 3157–3165.PubMedCrossRefGoogle Scholar
  3. 3.
    Gartler SM, Andina RK. Mammalian X chromosome inactivation.Adv Hum Genet 1976; 7: 99–140.PubMedGoogle Scholar
  4. 4.
    Ropers HH, Hoeltzenbein M, Kalscheuer V, Yntema H, Hamel B, Fryns JP, Chelly J, Parington M, Gecz J, Moraine C. Nonsyndromic X linked mental retardation: where are the missing mutations?Trends Genetics 2003; 19: 316–320.CrossRefGoogle Scholar
  5. 5.
    Kamnasaran D, O'Brien PC, Schuffenhauer S, Quarrell O, Lupski JR, Grammatico P, Ferguson Smith MA, Cox DW. Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes.Am J Med Genet 2001; 102: 173–182.PubMedCrossRefGoogle Scholar
  6. 6.
    Schuffenhauer S, Leifheit Hans-jurgen, Lichtner P, Peters H, Murken J, Emmerich P. De novo deletion (14) (q11.1; q13) including PAX9: clinical and molecular findings.J Med Genet 1999; 36: 233–236.PubMedGoogle Scholar
  7. 7.
    Shapira SK, Anderson KL, Orr-Urtregar A, Craigen WJ, Lupski JR, Shaffer LG. De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.Am J Med Genet 1994; 52: 44–50.PubMedCrossRefGoogle Scholar
  8. 8.
    Levin SW, Surana RB. Holoprosencephaly associated with 46, XX, del (14) (q11.1q13). Proc 8th Int Congr Hum Genet, abst 1483.Am J Hum Genet Suppl 1991; 49: 269.Google Scholar
  9. 9.
    Bruyere H, Favre B, Douvier S, Nivelon-Chevalier A, Mugneret F. De novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly.Prenat Diagn 1996; 16: 1059–1060.PubMedCrossRefGoogle Scholar

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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