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.
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References
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.
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.
Gartler SM, Andina RK. Mammalian X chromosome inactivation.Adv Hum Genet 1976; 7: 99–140.
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.
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.
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.
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.
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.
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.
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Gupta, N., Goel, H. & Phadke, S.R. Unbalanced X; autosome translocation. Indian J Pediatr 73, 840–842 (2006). https://doi.org/10.1007/BF02790399
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DOI: https://doi.org/10.1007/BF02790399