Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression

@article{Dvid2013CosegregationOT,
  title={Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression},
  author={Dezső D{\'a}vid and B{\'a}rbara Ara{\'u}jo Marques and Cristina Ferreira and Carlos Araujo and Luis Carlos Arango Vieira and Gabriela Soares and Cristina Dias and Maximina R Pinto},
  journal={Human Genetics},
  year={2013},
  volume={132},
  pages={1287-1299}
}
Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions. Here, we report the first familial TRPS I due to a t(8;13)(q23.3;q21.31) translocation breakpoint <100 kb from the 5′ end of TRPS1. Based on the additional abnormalities observed exclusively in the index patient that are mainly compatible with clinical features of TRPS, her phenotype was defined as expanded TRPS I including brain… CONTINUE READING
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