Unbalanced X; autosome translocation.
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2006-09-29
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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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Gupta N, Goel H, Phadke SR. Unbalanced X; autosome translocation. Indian Journal of Pediatrics. 2006 Sep; 73(9): 840-2