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PMID: 20673865 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).

American journal of human genetics ·Vol. 87 ·No. 2 ·2010-08-13 ·Pages 209-18

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

Abstract

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.

MeSH Terms
AT Rich Sequence/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
Authors & Affiliations
18 authors, click to expand affiliations / ORCID
Sheridan Molly B
The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
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
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
1537-6605
DOI
10.1016/j.ajhg.2010.07.002
Published
2010-08-13
Epub
2010-00-30
Pages
209-18
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC2917714
Subset
IM
Grants
NICHD NIH HHS · P30 HD026979 · United States
NCI NIH HHS · R01 CA039926 · United States
NCI NIH HHS · CA39926 · United States
NICHD NIH HHS · HD26979 · United States
External Links
PubMed source DOI: 10.1016/j.ajhg.2010.07.002 PMC Full Text View journal details
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