Roberts syndrome is reported in two sibs of consanguineous parents. Both infants had severe tetraphocomelia, facial clefting, and other serious malformations. In addition they were found to have an unusual cytogenetic abnormality with distortion of the normal sister chromatid relationship in many chromosomes.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1048840 | PMC |
| http://dx.doi.org/10.1136/jmg.19.2.116 | DOI Listing |
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