Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome.

@article{Monk2000DuplicationO7,
  title={Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome.},
  author={David S. Monk and Emma L. Wakeling and Virginia Proud and Megan P. Hitchins and Sayeda N Abu-Amero and Philip Stanier and Michael A. Preece and Gudrun E Moore},
  journal={American journal of human genetics},
  year={2000},
  volume={66 1},
  pages={36-46}
}
Silver-Russell syndrome (SRS) is characterized by pre- and postnatal growth failure and other dysmorphic features. The syndrome is genetically heterogeneous, but maternal uniparental disomy of chromosome 7 has been demonstrated in approximately 7% of cases. This suggests that at least one gene on chromosome 7 is imprinted and involved in the pathogenesis of SRS. We have identified a de novo duplication of 7p11.2-p13 in a proband with features characteristic of SRS. FISH confirmed the presence… CONTINUE READING
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