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10.1016/j.ajhg.2010.07.002

http://scihub22266oqcxt.onion/10.1016/j.ajhg.2010.07.002
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suck abstract from ncbi


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pmid20673865      Am+J+Hum+Genet 2010 ; 87 (2): 209-18
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  • A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24 13;q11 21) #MMPMID20673865
  • 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
  • Am J Hum Genet 2010[Aug]; 87 (2): 209-18 PMID20673865show ga
  • 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.
  • |*Nondisjunction, Genetic[MESH]
  • |AT Rich Sequence/genetics[MESH]
  • |Adolescent[MESH]
  • |Adult[MESH]
  • |Base Sequence[MESH]
  • |Child[MESH]
  • |Child, Preschool[MESH]
  • |Chromosome Breakage[MESH]
  • |Chromosomes, Human, Pair 22/*genetics[MESH]
  • |Chromosomes, Human, Pair 8/*genetics[MESH]
  • |Female[MESH]
  • |Gene Dosage/genetics[MESH]
  • |Genotype[MESH]
  • |Health[MESH]
  • |Humans[MESH]
  • |Inverted Repeat Sequences/*genetics[MESH]
  • |Male[MESH]
  • |Meiosis/*genetics[MESH]
  • |Molecular Sequence Data[MESH]
  • |Phenotype[MESH]
  • |Sequence Analysis, DNA[MESH]
  • |Spermatogenesis/genetics[MESH]
  • |Spermatozoa/metabolism[MESH]


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