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A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).
Sheridan MB, Kato T, Haldeman-Englert C, Jalali GR, Milunsky JM, Zou Y, Klaes R, Gimelli G, Gimelli S, Gemmill RM, Drabkin HA, Hacker AM, Brown J, Tomkins D, Shaikh TH, Kurahashi H, Zackai EH, Emanuel BS. Sheridan MB, et al. Among authors: shaikh th. Am J Hum Genet. 2010 Aug 13;87(2):209-18. doi: 10.1016/j.ajhg.2010.07.002. Epub 2010 Jul 30. Am J Hum Genet. 2010. PMID: 20673865 Free PMC article.
The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Demaerel W, Mostovoy Y, Yilmaz F, Vervoort L, Pastor S, Hestand MS, Swillen A, Vergaelen E, Geiger EA, Coughlin CR, Chow SK, McDonald-McGinn D, Morrow B, Kwok PY, Xiao M, Emanuel BS, Shaikh TH, Vermeesch JR. Demaerel W, et al. Among authors: shaikh th. Genome Res. 2019 Sep;29(9):1389-1401. doi: 10.1101/gr.248682.119. Genome Res. 2019. PMID: 31481461 Free PMC article.
84 results