A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: The t(8;22)(q24.13;q11.21)

Molly B. Sheridan, Takema Kato, Chad Haldeman-Englert, G. Reza Jalali, Jeff M. Milunsky, Ying Zou, Ruediger Klaes, Georgio Gimelli, Stefania Gimelli, Robert M. Gemmill, Harry A. Drabkin, April M. Hacker, Julia Brown, David Tomkins, Tamim H. Shaikh, Hiroki Kurahashi, Elaine H. Zackai, Beverly S. Emanuel

研究成果: Article査読

32 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)209-218
ページ数10
ジャーナルAmerican Journal of Human Genetics
87
2
DOI
出版ステータスPublished - 13-08-2010

All Science Journal Classification (ASJC) codes

  • 遺伝学
  • 遺伝学(臨床)

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