唐氏综合征中的染色体结构异常：对两个家庭的研究

Structural chromosome abnormalities in Down syndrome: a study of two families.

作者信息

Jacobs P A, Mayer M, Rudak E

出版信息

Cytogenet Cell Genet. 1978;20(1-6):185-93. doi: 10.1159/000130850.

DOI:10.1159/000130850

Abstract

Two families were ascertained through a proband with Down syndrome and a structural rearrangement involving two chromosomes 21. It is suggested that in one patient the chromosome is an isochromosome formed by misdivision of the centromere of a maternal telocentric chromosome 21 and that in the other a Robertsonian translocation involving chromosome 21 was inherited from the mother, who is a 46,XX/46,XX, -21,+t(21q21q) mosaic. The origin of the mosaicism is discussed and considered to be likely to be the result of breakage and reunion at the chromatid, rather than the chromosome, level.

摘要

通过一名患有唐氏综合征且涉及两条21号染色体结构重排的先证者确定了两个家系。据推测，在一名患者中，该染色体是由一条母源性端着丝粒21号染色体的着丝粒错误分裂形成的等臂染色体，而在另一名患者中，涉及21号染色体的罗伯逊易位是从母亲那里遗传而来的，母亲是一名46,XX/46,XX, -21,+t(21q21q)嵌合体。讨论了嵌合体的起源，并认为其可能是染色单体而非染色体水平的断裂和重聚的结果。

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