Open AccessA Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)
Author(s) -
Molly B. Sheridan,
Takema Kato,
Chad HaldemanEnglert,
G. Reza Jalali,
Jeff M. Milunsky,
Ying Zou,
Ruediger Klaes,
G. Gimelli,
Stefania Gimelli,
Robert M. Gemmill,
Harry A. Drabkin,
April M. Hacker,
Julia Brown,
David F Tomkins,
Tamim H. Shaikh,
Hiroki Kurahashi,
Elaine H. Zackai,
Beverly S. Emanuel
Publication year - 2010
Publication title -
the american journal of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.661
H-Index - 302
eISSN - 1537-6605
pISSN - 0002-9297
DOI - 10.1016/j.ajhg.2010.07.002
Subject(s) - chromosomal translocation , nondisjunction , breakpoint , meiosis , palindrome , biology , genetics , genome instability , chromosomal rearrangement , karyotype , aneuploidy , dna , chromosome , genome , gene , dna damage
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.
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