A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).
basic_science · Level V
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- Record sourced from PubMed, PMID 20673865.
- Also identified by DOI 10.1016/j.ajhg.2010.07.002 and PMC identifier 2917714.
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Abstract
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.
Medical subject headings
- Chromosomes, Human, Pair 22
- Chromosomes, Human, Pair 8
- Inverted Repeat Sequences
- Meiosis
- Nondisjunction, Genetic
- Translocation, Genetic