Journal
CYTOGENETIC AND GENOME RESEARCH
Volume 101, Issue 2, Pages 124-129Publisher
KARGER
DOI: 10.1159/000074167
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Funding
- Medical Research Council [G0000477] Funding Source: Medline
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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. Copyright (C) 2003 S. Karger AG, Basel.
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