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 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.
Sheridan
Molly B
MB
The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Kato
Takema
T
Haldeman-Englert
Chad
C
Jalali
G Reza
GR
Milunsky
Jeff M
JM
Zou
Ying
Y
Klaes
Ruediger
R
Gimelli
Georgio
G
Gimelli
Stefania
S
Gemmill
Robert M
RM
Drabkin
Harry A
HA
Hacker
April M
AM
Brown
Julia
J
Tomkins
David
D
Shaikh
Tamim H
TH
Kurahashi
Hiroki
H
Zackai
Elaine H
EH
Emanuel
Beverly S
BS
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*