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Perinatal/Neonatal Case Presentation

A neonate with the Pelger–Huët anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12

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Abstract

We observed a neonate with cleft lip and palate, 13 sets of ribs, agenesis of the corpus callosum, slightly small penis, hypoglycemia, and what initially appeared to be a marked leukocyte ‘left shift’ on complete blood count, but which was actually a Pelger–Huët anomaly. A chromosomal microdeletion was identified at1q41-42.12.

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Authors and Affiliations

  1. Department of Women and Newborns, Intermountain Healthcare, Salt Lake City, UT, USA

    R D Christensen

  2. Primary Children's Medical Center and the Department of Pediatrics, Division of Hematology/Oncology, University of Utah School of Medicine, Salt Lake City, UT, USA

    H M Yaish

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  1. R D Christensen
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  2. H M Yaish
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Correspondence to R D Christensen.

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Christensen, R., Yaish, H. A neonate with the Pelger–Huët anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12. J Perinatol 32, 238–240 (2012). https://doi.org/10.1038/jp.2011.119

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  • DOI: https://doi.org/10.1038/jp.2011.119

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