title: A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).
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.
authors.affiliation: The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
authors.forename: Molly B
authors.initials: MB
authors.lastname: Sheridan
authors.forename: Takema
authors.initials: T
authors.lastname: Kato
authors.forename: Chad
authors.initials: C
authors.lastname: Haldeman-Englert
authors.forename: G Reza
authors.initials: GR
authors.lastname: Jalali
authors.forename: Jeff M
authors.initials: JM
authors.lastname: Milunsky
authors.forename: Ying
authors.initials: Y
authors.lastname: Zou
authors.forename: Ruediger
authors.initials: R
authors.lastname: Klaes
authors.forename: Georgio
authors.initials: G
authors.lastname: Gimelli
authors.forename: Stefania
authors.initials: S
authors.lastname: Gimelli
authors.forename: Robert M
authors.initials: RM
authors.lastname: Gemmill
authors.forename: Harry A
authors.initials: HA
authors.lastname: Drabkin
authors.forename: April M
authors.initials: AM
authors.lastname: Hacker
authors.forename: Julia
authors.initials: J
authors.lastname: Brown
authors.forename: David
authors.initials: D
authors.lastname: Tomkins
authors.forename: Tamim H
authors.initials: TH
authors.lastname: Shaikh
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kurahashi
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Beverly S
authors.initials: BS
authors.lastname: Emanuel
mesh_terms: D020856:AT Rich Sequence / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D018628:Gene Dosage / Q000235:genetics; D005838:Genotype; D006262:Health; D006801:Humans; D055029:Inverted Repeat Sequences / Q000235:genetics*; D008297:Male; D008540:Meiosis / Q000235:genetics*; D008969:Molecular Sequence Data; D009630:Nondisjunction, Genetic; D010641:Phenotype; D017422:Sequence Analysis, DNA; D013091:Spermatogenesis / Q000235:genetics; D013094:Spermatozoa / Q000378:metabolism; D014178:Translocation, Genetic / Q000235:genetics*