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

Authors :: Sheridan, Molly B.
Kato, Takema
Haldeman-Englert, Chad
Jalali, Reza
Milunsky, Jeff M.
Zou, Ying
Klaes, Ruediger
Gimelli, Georgio
Gimelli, Stefania
Gemmill, Robert M.
Drabkin, Harry A.
Hacker, April M.
Brown, Julia
Tomkins, David
Shaikh, Tamim H.
Kurahashi, Hiroki
Zackai, Elaine H.
Emanuel, Beverly S.
Source :: American Journal of Human Genetics. August 13, 2010, Vol. 87 Issue 2, p209, 10 p.
Publication Year :: 2010
Abstract: The study describes 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)(q11.21). PCR analysis of sperm DNA from healthy males shows that the t(8;22) arises de novo during gametogenesis in some individuals, suggesting palindrome-mediated translocation is a universal mechanism generating chromosomal rearrangements.

Subjects :: Dysmorphology -- Research
Meiosis -- Analysis
Polymerase chain reaction -- Usage
Translocation (Genetics) -- Analysis
Biological sciences

Tools