Aznar J, Vaya A
Acta Haematol. 1981;66(1):59-62. doi: 10.1159/000207095.
A report on a new case of Pelger-Huët (PH) leukocyte anomaly in the homozygous form in an 18-month-old girl is presented. Clinically, the proband shows no special symptoms dependent on the leukocyte anomaly, but polydactyly affects both hands (six fingers on one hand) and feet (six toes on both feet). Her pedigree reveals the existence of three couples in which both husband and wife are heterozygous carriers of the PH anomaly. Study of the family lineage suggests that transmission of the leukocyte anomaly is prevailingly dominant in nature with complete penetration and variable expression.
本文报告了一名18个月大女孩的纯合型Pelger-Huët(PH)白细胞异常新病例。临床上,先证者未表现出依赖于白细胞异常的特殊症状,但多指(双手各有六指)和多趾(双足各有六趾)累及双手和双足。她的家系显示存在三对夫妻,夫妻双方均为PH异常的杂合携带者。对家族谱系的研究表明,白细胞异常的遗传在本质上主要呈显性,具有完全外显率和可变表达。