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在两代人中观察到9号染色体的臂间倒位以及涉及9号和10号染色体的重排。9号染色体(p12-p21)缺失综合征的临床描述。

A pericentric inversion of chromosome 9 and a rearrangement involving chromosomes 9 and 10, observed in two generations. Clinical description of chromosome 9 (p12-p21) deletion syndrome.

作者信息

Fällström S P, Wahlström J

出版信息

Clin Genet. 1979 Jun;15(6):480-6. doi: 10.1111/j.1399-0004.1979.tb00829.x.

Abstract

The clinical picture associated with a deletion of a central part of the short arm of chromosome no. 9 is described in two siblings. The clinical signs differ from those described in deletion of the terminal part of the short arm. Pericentric inversion of chromosome no. 9, combined with a rearrangement involving chromosomes 9 and 10, was found in the mother and the maternal grandmother of the propositus.

摘要

本文描述了两名同胞中与9号染色体短臂中央部分缺失相关的临床表现。其临床体征与9号染色体短臂末端缺失所描述的不同。在先证者的母亲和外祖母中发现了9号染色体的臂间倒位,以及涉及9号和10号染色体的重排。

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