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[异常染色体重排。一条多世纪以来带有随体的Y(Yqs)染色体上的常染色体端粒易位]

[Unusual chromosomal rearrangement. An autosomal telomeric translocation on a multicentury satellited Y (Yqs) chromosome].

作者信息

Genest P, Genest F B, Gagnon-Blais D

出版信息

Ann Genet. 1983;26(2):86-90.

PMID:6604491
Abstract

A new born male infant with craniostenosis and minor phenotypic malformations was found to have a satellited Yq chromosome with, translocated on its satellite, a segment from the terminal part of the long arm of a presumed autosome 14. The rearrangement is de novo since the propositus' father has a non-rearranged satellited Y chromosome and he is, furthermore, a member of a family line in which a Yqs is transmitted in patrilineary fashion since 1668. Such and autosomal translocation on a satellited Y chromosome is a very rare event, because the abnormality makes up a double rearrangement on the same arm of a chromosome, with a three-century interval between the two phenomenons. A presumed partial trisomy 14q is associated with the clinical picture of the case.

摘要

一名患有颅骨狭窄和轻微表型畸形的新生男婴被发现有一条带有卫星的Yq染色体,其卫星上有一段来自假定常染色体14长臂末端的片段。这种重排是新发的,因为先证者的父亲有一条未重排的带有卫星的Y染色体,而且他是一个家族谱系的成员,自1668年以来Yqs以父系方式传递。卫星Y染色体上的这种常染色体易位是非常罕见的事件,因为这种异常构成了染色体同一条臂上的双重重排,这两种现象之间间隔了三个世纪。推测的14q部分三体与该病例的临床表现相关。

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