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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Trisomy 14 Mosaicism: A Case Report and Review of the Literature

Journal of Perinatology volume 24, pages 121–123 (2004)Cite this article

Abstract

Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We describe two previously unreported abnormalities in this condition and delineate physical and psychomotor features and concerns for medical management. Trisomy 14 mosaicism should be suspected in individuals who have the features described herein, thus prompting cytogenetic evaluation of blood, and possibly other tissues for diagnosis.

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Acknowledgements

We thank the patient's parents for their permission to use photographs of their daughter, and Christopher McCaskill for the molecular studies.

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Authors and Affiliations

  1. Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA

    M Fran Lynch MD & Caraciolo J Fernandes MD

  2. Texas Children's Hospital, Houston, TX, USA

    M Fran Lynch MD, Caraciolo J Fernandes MD & Lorraine Potocki MD

  3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

    Lorraine Potocki MD

  4. Section of Neonatology, Baylor College of Medicine, Houston, TX, USA

    Caraciolo J Fernandes MD

  5. Health Research and Education Center, Washington State University, Spokane, WA, USA

    Lisa G Shaffer PhD

Authors
  1. M Fran Lynch MD
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  2. Caraciolo J Fernandes MD
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  3. Lisa G Shaffer PhD
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  4. Lorraine Potocki MD
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Fran Lynch, M., Fernandes, C., Shaffer, L. et al. Trisomy 14 Mosaicism: A Case Report and Review of the Literature. J Perinatol 24, 121–123 (2004). https://doi.org/10.1038/sj.jp.7211048

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  • DOI: https://doi.org/10.1038/sj.jp.7211048

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