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  • Perinatal/Neonatal Case Presentation
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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

Journal of Perinatology volume 32, pages 238–240 (2012)Cite this article

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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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References

  1. CDC. Prevention of perinatal group B streptococcal disease. Revised guidelines from CDC. MMWR. Centers for Disease Control and Prevention, Atlanta, GA, 19 November 2010; 59. CDC, 10.

  2. Manroe BL, Rosenfeld CR, Weinberg AG, Browne R . The differential leukocyte count in the assessment and outcome of early-onset neonatal group B streptococcal disease. J Pediatr 1977; 91: 632–637.

    Article  CAS  Google Scholar 

  3. Christensen RD, Bradley PP, Rothstein G . The leukocyte left shift in clinical and experimental neonatal sepsis. J Pediatr 1981; 98: 101–105.

    Article  CAS  Google Scholar 

  4. Christensen RD, Henry E, Andres RL, Bennett ST . Reference ranges for blood concentrations of nucleated red blood cells in neonates. Neonatology 2010; 99: 289–294.

    Article  Google Scholar 

  5. Feldman KW, Smith DW . Fetal phallic growth and penile standards for newborn male infants. J Pediatr 1975; 86: 395–398.

    Article  CAS  Google Scholar 

  6. Speeckaert MM, Verhelst C, Koch A, Speeckaert R, Lacquet F . Pelger-Huet anomaly: a critical review of the literature. Acta Haematol 2009; 121: 202–206.

    Article  CAS  Google Scholar 

  7. Mohamed IS, Wynn RJ, Cominsky K, Reynolds AM, Ryan RM, Kumar VH et al. White blood cell left shift in a neonate: a case of mistaken identity. J Perinatol 2006; 26: 378–380.

    Article  CAS  Google Scholar 

  8. Skubitz KM . Qualitative disorders of leukocytes In: Greer JP, Forester J, Rodgers GM, Paraskevas F, Glader B, Arber DA, Means, RT Jr., (eds). Wintrobe's Clinical Hematology. 12th edn Lippincott/Williams & Wilkins: Philadelphia, 2009, p 1548.

    Google Scholar 

  9. Orkin SH, Nathan DG, Fisher DE, Look AT, Lux, SE,IV, Ginsburg D (eds). Nathan & Oski's Hematology of Infancy and Childhood. 7th edn, Elsevier/Mosby/Saunders: Philadelphia, 2008, p 1710.

  10. Filges I, Röthlisberger B, Boesch N, Weber P, Wenzel F, Huber AR et al. Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. Am J Med Genet A 2010; 152: 987–993.

    Article  Google Scholar 

  11. Kalfa TA, Zimmerman SA, Goodman BK, McDonald MT, Ware RE . Pelger-Huët anomaly in a child with 1q42.3-44 deletion. Pediatr Blood Cancer 2006; 46: 645–648.

    Article  Google Scholar 

  12. Mazzeu JF, Vianna-Morgante AM, Krepischi ACV, Oudakker A, Rosenberg C, Szuhi K et al. Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome. Clin Genet 2011; 77: 404–407.

    Article  Google Scholar 

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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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