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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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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