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We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r(21)/i(21p13) mosaicism and rob(14;21)]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and phenotypically normal. This unusual association has not been reported and is considered to be a unique case that should be addressed.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2823026 | PMC |
| http://dx.doi.org/10.3349/ymj.2005.46.2.284 | DOI Listing |
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