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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Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Elsevier 2010
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Article
Online Zugang: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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