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一个患有遗传性脆性16号染色体综合征的家族中的染色体疾病和肿瘤性疾病。因果关系还是偶然巧合?

Chromosomal disorder and neoplastic diseases in a family with inherited fragile 16. Causality or casualty?

作者信息

Ferro M T, García-Sagredo J M, Resino M, del Potro E, Villegas A, Mediavilla J, Espinós D, San Román C

机构信息

Medical Genetics Department, Hospital Clínico de San Carlos, Madrid, Spain.

出版信息

Cancer Genet Cytogenet. 1994 Dec;78(2):160-4. doi: 10.1016/0165-4608(94)90084-1.

Abstract

We describe a family with an inherited fragile chromosome 16 with the concurrence of a constitutional chromosome abnormality, together with neoplastic pathology within the family. The following findings should be pointed out: in relation to the constitutional chromosome pathology, of the proband's 3 children, the eldest daughter was a carrier of the fragile 16, the same as the father, and the second child, a son, had Down syndrome (trisomy 21). Regarding the tumoral pathology of this family, one of the proband's daughters died in childhood from acute lymphoblastic leukemia, whereas the proband developed two different malignant hematologic disorders: a follicular lymphoma and an acute nonlymphocytic leukemia (M5 type). Moreover, two independent acquired chromosome disorders coexisted in the proband; each of these was related to one of the respective hematologic disorders.

摘要

我们描述了一个家族,其成员存在遗传性16号染色体脆性位点,同时伴有一种先天性染色体异常,并且家族内存在肿瘤病理学情况。应指出以下发现:关于先天性染色体病理学,先证者的3个孩子中,大女儿是16号脆性染色体携带者,与父亲相同,第二个孩子是儿子,患有唐氏综合征(21三体)。关于该家族的肿瘤病理学,先证者的一个女儿童年时死于急性淋巴细胞白血病,而先证者患了两种不同的恶性血液系统疾病:滤泡性淋巴瘤和急性非淋巴细胞白血病(M5型)。此外,先证者同时存在两种独立的后天性染色体疾病;每种疾病都与相应的一种血液系统疾病相关。

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