Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.

@article{Tomaszewska2013DeletionO1,
  title={Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.},
  author={Agnieszka Tomaszewska and Agnieszka Podbiol-Palenta and Marjan Boter and Gabriela Geisler and Angelika Wawrzkiewicz-Witkowska and R. J. H. Galjaard and Stanislaw Zajączek and Malgorzata I Srebniak},
  journal={American journal of medical genetics. Part A},
  year={2013},
  volume={161A 9},
  pages={2347-51}
}
Interstitial 2q deletions are very rare chromosome abnormalities. The 2q32q33 deletion was proposed as a distinct entity with characteristic phenotype. Most patients have feeding problems, growth restriction, moderate to severe developmental delay, speech delay or lack of speech, high, prominent forehead, thin sparse hair, teeth abnormalities and a high or cleft palate. We report on another rare case of interstitial 2q33 deletion found during routine karyotyping and further characterized by the… CONTINUE READING
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