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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Kalfa, TA; Zimmerman, SA; Goodman, BK; McDonald, MT; Ware, RE

Published Date

  • May 1, 2006

Published In

Volume / Issue

  • 46 / 5

Start / End Page

  • 645 - 648

PubMed ID

  • 16007606

International Standard Serial Number (ISSN)

  • 1545-5009

Digital Object Identifier (DOI)

  • 10.1002/pbc.20504


  • eng

Conference Location

  • United States