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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

A neonate with congenital amegakaryocytic thrombocytopenia associated with a chromosomal microdeletion at 21q22.11 including the gene RUNX1

Journal of Perinatology volume 33, pages 242–244 (2013)Cite this article

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Abstract

We observed a neonate who had severe thrombocytopenia wherein evaluations for neonatal immune-mediated thrombocytopenia and congenital infections were negative, and the marrow findings were consistent with congenital amegakaryocytic thrombocytopenia (CAMT). A genomic microarray identified a microdeletion at 21q22.11 including the gene RUNX1. Two somewhat similar cases were recently reported, but with multiple congenital anomalies that are not present in our case. We propose that a 21q22 deletion resulting in RUNX1 haploinsufficiency can produce a phenotype similar to CAMT with various associated anomalies depending on which adjacent genes are absent or disrupted.

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Authors and Affiliations

  1. Department of Women and Newborns, Intermountain Healthcare, Ogden, UT, USA

    R D Christensen

  2. Division of Neonatology, University of Utah School of Medicine, Salt Lake City, UT, USA

    S E Wiedmeier

  3. Division of Hematology/Oncology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA

    H M Yaish

Authors
  1. R D Christensen
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  2. S E Wiedmeier
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  3. H M Yaish
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Correspondence to R D Christensen.

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Christensen, R., Wiedmeier, S. & Yaish, H. A neonate with congenital amegakaryocytic thrombocytopenia associated with a chromosomal microdeletion at 21q22.11 including the gene RUNX1. J Perinatol 33, 242–244 (2013). https://doi.org/10.1038/jp.2012.53

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