|
|||||
|
|
A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21) |
|
| Authors: | Molly B Sheridan Chad Haldeman-Englert Jeff M Milunsky Ruediger Klaes Stefania Gimelli Harry A Drabkin Julia Brown Tamim H Shaikh Elaine H Zackai Beverly S Emanuel |
| Institution: | 1 Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA 2 Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, 470-1192, Japan 3 Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA 4 Boston University School of Medicine, Boston, MA 02118, USA 5 Mannheim Center for Human Genetics, Mannheim, 68165, Germany 6 Laboratorio di Citogenetica, Istituto G. Gaslini, Genova, 16147, Italy 7 Department of Genetic Medicine, University Hospitals of Geneva, Geneva, 1211, Switzerland 8 Medical University of South Carolina, Charleston, SC 29425, USA 9 Department of Pediatrics, University of Colorado, Denver, CO 80045, USA 10 University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA |
| 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. |
| Keywords: | |
| 本文献已被 ScienceDirect 等数据库收录！ | |