Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant.
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ABSTRACT:
SUBMITTER: da Costa Almeida CB
PROVIDER: S-EPMC6976314 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Publications
Report of the Phenotype of a Patient with Roberts Syndrome and a Rare <i>ESCO2</i> Variant.
da Costa Almeida Carla Bastos CB Welter Amanda Thum AT Abech Gabriel Dotta GD Brandão Gabriela Rangel GR Flores José Antônio Monteiro JAM Schüle Birgitt B Francke Uta U Fiegenbaum Marilu M Zen Paulo Ricardo Gazzola PRG Rosa Rafael Fabiano Machado RFM
Journal of pediatric genetics 20190903 1
Roberts syndrome is a rare autosomal recessive genetic disease. In this report, we report a Brazilian patient with a rare <i>ESCO2</i> 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 r ...[more]
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