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一名患有未治疗恶性黑色素瘤的女性所生孩子出现的主要核型异常。

Major karyotypic abnormality in a child born to a woman with untreated malignant melanoma.

作者信息

Fitzgerald P H, Miethke P, Caseley R T

出版信息

Clin Genet. 1977 Sep;12(3):155-61. doi: 10.1111/j.1399-0004.1977.tb00918.x.

DOI:10.1111/j.1399-0004.1977.tb00918.x
PMID:908168
Abstract

The karyotype of a 7-month-old child had 46 chromosomes, including five abnormal chromosomes in cultured lymphocytes. G-banding indicated the presence of reciprocal translocation products between chromosomes 1 and 7 and between chromosomes 4 and 15. A probable third translocation involved the same chromosome 4p arm and 12q. All metaphases showed these changes. C-band markers and the presence of reciprocal exchange products indicated that the chromosome changes occurred in the zygote or a post-zygotic cell of the child. The mother developed malignant melanoma while carrying the child but did not receive therapy before its birth. The suggestion is made that an undetected common agent was involved in the aetiology of the mother's tumour and the clastogenic change to the child's chromosomes.

摘要

一名7个月大儿童的核型有46条染色体,其中培养的淋巴细胞中有5条异常染色体。G显带显示1号和7号染色体之间以及4号和15号染色体之间存在相互易位产物。可能的第三次易位涉及同一条4号染色体短臂和12号染色体长臂。所有中期相均显示出这些变化。C带标记和相互交换产物的存在表明染色体变化发生在受精卵或该儿童的合子后细胞中。母亲在怀这名儿童时患上了恶性黑色素瘤,但在其出生前未接受治疗。有人提出,一种未被检测到的共同因素参与了母亲肿瘤的病因以及对儿童染色体的致断裂变化。

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Major karyotypic abnormality in a child born to a woman with untreated malignant melanoma.一名患有未治疗恶性黑色素瘤的女性所生孩子出现的主要核型异常。
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Additional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype.由于孩子母亲核型中存在平衡易位t(12;18)(p13;q12),导致孩子出现额外的染色体。
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引用本文的文献

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Complex chromosome rearrangement with ankyloblepharon filiforme adnatum.伴有丝状黏连性睑缘粘连的复杂染色体重排
J Med Genet. 1993 Feb;30(2):167-70. doi: 10.1136/jmg.30.2.167.
2
A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization.产前检测到的一种复杂染色体重排,并通过荧光原位杂交进行研究。
Hum Genet. 1993 Sep;92(2):117-21. doi: 10.1007/BF00219677.
3
De novo translocation heterozygote with three reciprocal translocations.具有三个相互易位的新生易位杂合子。
J Med Genet. 1983 Oct;20(5):385-8. doi: 10.1136/jmg.20.5.385.