| A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). | |
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MedLine Citation:
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PMID: 20673865 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Molly B Sheridan; Takema Kato; Chad Haldeman-Englert; G Reza Jalali; Jeff M Milunsky; Ying Zou; Ruediger Klaes; Georgio Gimelli; Stefania Gimelli; Robert M Gemmill; Harry A Drabkin; April M Hacker; Julia Brown; David Tomkins; Tamim H Shaikh; Hiroki Kurahashi; Elaine H Zackai; Beverly S Emanuel |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2010-07-30 |
Journal Detail:
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Title: American journal of human genetics Volume: 87 ISSN: 1537-6605 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-08-10 Completed Date: 2010-09-01 Revised Date: 2011-07-25 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: United States |
Other Details:
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Languages: eng Pagination: 209-18 Citation Subset: IM |
Affiliation:
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The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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AT Rich Sequence
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genetics Adolescent Adult Base Sequence Child Child, Preschool Chromosome Breakage Chromosomes, Human, Pair 22 / genetics* Chromosomes, Human, Pair 8 / genetics* Female Gene Dosage / genetics Genotype Health Humans Inverted Repeat Sequences / genetics* Male Meiosis / genetics* Molecular Sequence Data Nondisjunction, Genetic* Phenotype Sequence Analysis, DNA Spermatogenesis / genetics Spermatozoa / metabolism Translocation, Genetic / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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CA39926/CA/NCI NIH HHS; HD26979/HD/NICHD NIH HHS |
| Comments/Corrections | |
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