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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation.

In a 6 year old boy referred for mental retardation, fragile X syndrome was ruled out by cytogenetic and molecular analyses. Cytogenetic investigations revealed an inverted X chromosome (p21.3q27.1). A similar chromosomal rearrangement was detected in his mildly mentally retarded mother. Fluorescence in situ hybridization (FISH), using a panel of ordered YAC clones, allowed the identification of YACs spanning both the Xp21.3 and Xq27.1 breakpoints, where many non-specific mental retardation loci have been reported so far. Further investigations by FISH showed that the IL1RAPL1 gene at Xp21.3 was disrupted by the X chromosome inversion and therefore its inactivation may be related to the mental retardation observed in our patients.[1]

References

  1. Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation. Leprêtre, F., Delannoy, V., Froguel, P., Vasseur, F., Montpellier, C. Cytogenet. Genome Res. (2003) [Pubmed]
 
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