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Pelger–Huët anomaly in a child with 1q42.3‐44 deletion
Author(s) -
Kalfa Theodosia A.,
Zimmerman Sherri A.,
Goodman Barbara K.,
McDonald Marie T.,
Ware Russell E.
Publication year - 2005
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.20504
Subject(s) - subtelomere , medicine , genetics , gene deletion , chromosome , failure to thrive , gene , anomaly (physics) , biology , pediatrics , physics , mutant , condensed matter physics
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. © 2005 Wiley‐Liss, Inc.