Unbalanced X; autosome translocation |
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Authors: | Neerja Gupta Himanshu Goel Shubha R Phadke |
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Institution: | (1) Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, 226014 Lucknow |
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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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Keywords: | X autosome translocation Monosomy 14q11 2 Monosomy Xq28 Mental retardation |
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