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9号染色体臂间倒位:良性还是有害?

Pericentric inversions of chromosome number 9: benign or harmful?

作者信息

Howard-Peebles P N, Stoddard G R

出版信息

Hum Hered. 1979;29(2):111-7. doi: 10.1159/000153026.

Abstract

Pericentric inversions of chromosome number 9 have been studied in 4 different probands: a normal female with designation 46,XX,inv(9)(p12q13); a male with Down syndrome designated as 47,XY,+21,inv(9))p13q13); a premature infant with multiple, congenital malformations who was 46,XX,inv(9)(p12q21), and a Down syndrome proband with 47,XYqs,+21,inv(9)(p13q21). All 4 cases were shown to be inherited based on family studies. These families are discussed with reference to the literature as to what possible effect this structural change could have on the reproductive capability of a normal carrier and what guidelines are available for counseling such a carrier.

摘要

已对4名不同的先证者进行了9号染色体臂间倒位的研究:一名正常女性,核型为46,XX,inv(9)(p12q13);一名患有唐氏综合征的男性,核型为47,XY,+21,inv(9)(p13q13);一名患有多种先天性畸形的早产儿,核型为46,XX,inv(9)(p12q21);以及一名患有唐氏综合征的先证者,核型为47,XYqs,+21,inv(9)(p13q21)。根据家系研究,所有4例均显示为遗传性。结合文献讨论了这些家系,这种结构变化可能对正常携带者的生殖能力产生何种影响,以及为这类携带者提供咨询有哪些指导原则。

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