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[佩尔格-许特粒细胞异常:同一家族中两名纯合子患者的首例报告]

[The Pelger-Huet granulocytic anomaly: first report of 2 homozygous subjects in the same family].

作者信息

Riario-Sforza G, Salvati F, Troya C

出版信息

Arch Sci Med (Torino). 1981 Oct-Dec;138(4):511-5.

PMID:7340736
Abstract

Pelger-Huet granulocyte anomaly is characterized by the presence of granulocytes with a non segmented nucleus and thick nuclear chromatin gathered in large lumps. In human we known two forms of the anomaly: the heterozygous form often described by many authors, and the homozygous form, very rare. With regard to morphology, the homozygous form is characterized by granulocytes with round nucleus and very coarse chromatin. In this report the presence of two homozygous carriers of the anomaly in the same family is discussed.

摘要

Pelger-Huet粒细胞异常的特征是存在核不分叶且核染色质粗大、聚集成大块的粒细胞。在人类中,我们已知该异常有两种形式:杂合子形式常被许多作者描述,而纯合子形式非常罕见。在形态学方面,纯合子形式的特征是粒细胞呈圆形核且染色质非常粗糙。本报告讨论了同一家族中两名该异常纯合子携带者的情况。

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