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Article Abstract
Roberts syndrome is a rare autosomal recessive genetic disease. In this report, we report a Brazilian patient with a rare variant. The patient manifested a broad range of clinical findings including the significant, bilateral shortening of the extremities. He deteriorated and passed away at 20 days of age. High-resolution GTG-banded karyotype showed lack of centromeric constriction in some chromosomes, premature centromere separation in others, and repulsion of the heterochromatin regions. Molecular analysis of the gene revealed a deletion of 4 bp involving exon 4 in homozygosity (NM_00107420.2:c.875_878delACAG), which causes loss of function. We describe the clinical presentation caused by a rare variant.
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| http://dx.doi.org/10.1055/s-0039-1696636 | DOI Listing |
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