Pelger-Huët anomaly in a child with 1q42.3-44 deletion.
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.
Kalfa
Theodosia A
TA
Hematology-Oncology, Cincinnati Children's Hospital Medical Center, The University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA. theodosia.kalfa@cchmc.org
Zimmerman
Sherri A
SA
Goodman
Barbara K
BK
McDonald
Marie T
MT
Ware
Russell E
RE
D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D006801:Humans; D009504:Neutrophils / Q000378:metabolism; D010381:Pelger-Huet Anomaly / Q000235:genetics* / Q000473:pathology; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics; D017384:Sequence Deletion; D000097682:Lamin B Receptor
D018160:Receptors, Cytoplasmic and Nuclear; D000097682:Lamin B Receptor