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A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)

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 unrecogniz...

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Bibliografske podrobnosti
Main Authors: Sheridan, Molly B., Kato, Takema, Haldeman-Englert, Chad, Jalali, G. 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.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2010
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2917714/
https://ncbi.nlm.nih.gov/pubmed/20673865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.07.002
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