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Pelger-Huët anomaly in a child with 1q42.3-44 deletion.

Publication ,  Journal Article
Kalfa, TA; Zimmerman, SA; Goodman, BK; McDonald, MT; Ware, RE
Published in: Pediatr Blood Cancer
May 1, 2006

Congenital Pelger-Huët anomaly (PHA) is an autosomal dominant disorder characterized by hypolobulated neutrophils with coarse clumping of the nuclear chromatin. PHA has been recently linked to the gene encoding the lamin B receptor, located at chromosome 1q41-43. The authors report a case of PHA in a child with interstitial deletion of the 1q subtelomeric region (1q42.3-44), providing supportive evidence to this linkage. All neutrophils in the peripheral blood smear had the characteristic unsegmented or bilobed appearance. Additional features in this child included failure to thrive, developmental delay, cleft palate, seizure disorder, and dysmorphic facial features.

Duke Scholars

Published In

Pediatr Blood Cancer

DOI

ISSN

1545-5009

Publication Date

May 1, 2006

Volume

46

Issue

5

Start / End Page

645 / 648

Location

United States

Related Subject Headings

  • Sequence Deletion
  • Receptors, Cytoplasmic and Nuclear
  • Pelger-Huet Anomaly
  • Oncology & Carcinogenesis
  • Neutrophils
  • Humans
  • Female
  • Chromosomes, Human, Pair 1
  • Child, Preschool
  • 1114 Paediatrics and Reproductive Medicine
 

Citation

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MLA
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Kalfa, T. A., Zimmerman, S. A., Goodman, B. K., McDonald, M. T., & Ware, R. E. (2006). Pelger-Huët anomaly in a child with 1q42.3-44 deletion. Pediatr Blood Cancer, 46(5), 645–648. https://doi.org/10.1002/pbc.20504
Kalfa, Theodosia A., Sherri A. Zimmerman, Barbara K. Goodman, Marie T. McDonald, and Russell E. Ware. “Pelger-Huët anomaly in a child with 1q42.3-44 deletion.Pediatr Blood Cancer 46, no. 5 (May 1, 2006): 645–48. https://doi.org/10.1002/pbc.20504.
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 May 1;46(5):645–8.
Kalfa, Theodosia A., et al. “Pelger-Huët anomaly in a child with 1q42.3-44 deletion.Pediatr Blood Cancer, vol. 46, no. 5, May 2006, pp. 645–48. Pubmed, doi:10.1002/pbc.20504.
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 May 1;46(5):645–648.
Journal cover image

Published In

Pediatr Blood Cancer

DOI

ISSN

1545-5009

Publication Date

May 1, 2006

Volume

46

Issue

5

Start / End Page

645 / 648

Location

United States

Related Subject Headings

  • Sequence Deletion
  • Receptors, Cytoplasmic and Nuclear
  • Pelger-Huet Anomaly
  • Oncology & Carcinogenesis
  • Neutrophils
  • Humans
  • Female
  • Chromosomes, Human, Pair 1
  • Child, Preschool
  • 1114 Paediatrics and Reproductive Medicine