A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)
A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)
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DOI：
10.1016/j.ajhg.2010.07.002
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发表时间：
2010-08-13
影响因子：
9.8
通讯作者：
Emanuel, Beverly S.
中科院分区：
文献类型：
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作者：
Sheridan, Molly B.;Kato, Takema;Emanuel, Beverly S.
回文介导的基因组不稳定性与染色体易位有关，包括复发性t（11;22）（q23;q11）。我们报告了一种以四肢畸形、轻度精神障碍和智力障碍为特征的综合征，其由以前未被识别的复发性回文介导的重排t（8;22）（q24.13;q11.21）的3：1减数分裂分离引起。至少有10个先前的报告，这种易位，几乎相同的PATRR 8和PATRR 22断点在这些已发表的情况下进行了验证。健康男性精子DNA的PCR分析表明，t（8;22）在配子发生过程中重新出现在一些，但不是所有的个体。此外，证明从头PATRR 8到PATRR 11易位发生在精子表明回文介导的易位是一个普遍的机制产生染色体重排。
Palindrome-mediated genomic instability has been associated with chromosomal translocations, including the recurrent t(11;22) (q23;q11). We report a syndrome characterized by extremity anomalies, mild dysmorphia, and intellectual impairment caused by 3:1 meiotic segregation of a previously unrecognized recurrent palindrome-mediated rearrangement, the t(8;22)(q24.13;q11.21). There are at least ten prior reports of this translocation, and nearly identical PATRR8 and PATRR22 breakpoints were validated in several of these published cases. PCR analysis of sperm DNA from healthy males indicates that the t(8;22) arises de novo during gametogenesis in some, but not all, individuals. Furthermore, demonstration that de novo PATRR8-to-PATRR11 translocations occur in sperm suggests that palindrome-mediated translocation is a universal mechanism producing chromosomal rearrangements.