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嵌合型10号染色体三体(作者译)

[Trisomy of chromosome No. 10 in mosaic (author's transl)].

作者信息

Vianello M G, Gemme G, Bonioli E, Olivo F

出版信息

J Genet Hum. 1978 Jun;26(2):185-91.

PMID:670946
Abstract

A case of trisomy of chromosome No. 10 in mosaic is described in a boy who died at the age of 6 months. The frequency of pathological cells is less than 30% (28% from lymphocytes, 20% from fibroblasts); it is possible, anyway, to rule out the hypothesis of a cellular cloning in vitro, since the trisomy 10 was observed in two different cultures, terminated after 48 and 72 hours. The parents' karyotype was normal, except for a litte number (6%) of cells with trisomy 10 from cultured lymphocytes of the mother. The morphological features of the present case are compared with those of the boy described by Higurashi et al. in 1969 (mosaic of trisomy 10, with a higher frequency of pathological cells).

摘要

本文描述了一名6个月大时死亡的男孩,其存在10号染色体三体性嵌合体的病例。病理细胞的频率低于30%(淋巴细胞为28%,成纤维细胞为20%);不过,由于在48小时和72小时后终止培养的两种不同培养物中均观察到10号染色体三体性,因此可以排除体外细胞克隆的假设。父母的核型正常,不过母亲培养的淋巴细胞中有少量(6%)细胞存在10号染色体三体性。将本病例的形态学特征与Higurashi等人于1969年描述的男孩(10号染色体三体性嵌合体,病理细胞频率更高)的特征进行了比较。

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