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[一名患有21三体综合征的新生儿出现短暂性原始粒细胞增多症和巨核细胞生成异常,伴有46, XX+21克隆,t(5;7)]

[Transient leukoblastosis and dysmegakariocytopoiesis with clone 46, XX+21, t(5;7), in a newborn infant with trisomy 21].

作者信息

Laï J L, Zandecki M, Weill J, Cosson A, Ponte C, Deminatti M

出版信息

Nouv Rev Fr Hematol (1978). 1983;25(6):363-7.

PMID:6229713
Abstract

A case of transient leukemoid reaction in a child with Down's syndrome with the presence of leukoblasts in the blood at birth is reported. The karyotype established on culture of lymphocytes and fibroblasts was characterized by a chromosomic formula 47, XX,21+. The karyotype established on day 13 of life on cultured bone marrow showed a trisomic 21 abnormal clone with 46 chromosomes resulting from a translocation of the long arms of chromosomes 5 and 7, which gave the chromosomic formula: 46, XX, -5, -7,t (5 qter leads to cen leads to 7 qter), +21. This clone was present in spontaneous blood mitoses. It disappeared on day 75 of life as well as the abnormal leukoblasts. The peculiarity of this case in due to the presence of an aneuploid clone and the association of a leukemoid reaction and dysmegakaryocytopoiesis both of which were transient.

摘要

报告了1例患有唐氏综合征的儿童出生时血液中存在原始白细胞的短暂类白血病反应病例。通过淋巴细胞和成纤维细胞培养确定的核型特征为染色体组型47,XX,21+。出生后第13天对培养的骨髓进行核型分析,显示出一个三体21异常克隆,其46条染色体由5号和7号染色体长臂易位产生,染色体组型为:46,XX,-5,-7,t(5qter导致cen导致7qter),+21。该克隆存在于自发血液有丝分裂中。它在出生后第75天消失,异常原始白细胞也随之消失。该病例的独特之处在于存在非整倍体克隆,以及类白血病反应和巨核细胞生成异常的关联,两者均为短暂性。

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