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.
| Original language | English |
|---|---|
| Pages (from-to) | 209-218 |
| Number of pages | 10 |
| Journal | American Journal of Human Genetics |
| Volume | 87 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 13-08-2010 |
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All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)
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A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction : The t(8;22)(q24.13;q11.21). / Sheridan, Molly B.; 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.
In: American Journal of Human Genetics, Vol. 87, No. 2, 13.08.2010, p. 209-218.Research output: Contribution to journal › Article
TY - JOUR
T1 - A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction
T2 - The t(8;22)(q24.13;q11.21)
AU - Sheridan, Molly B.
AU - Kato, Takema
AU - Haldeman-Englert, Chad
AU - Jalali, G. Reza
AU - Milunsky, Jeff M.
AU - Zou, Ying
AU - Klaes, Ruediger
AU - Gimelli, Georgio
AU - Gimelli, Stefania
AU - Gemmill, Robert M.
AU - Drabkin, Harry A.
AU - Hacker, April M.
AU - Brown, Julia
AU - Tomkins, David
AU - Shaikh, Tamim H.
AU - Kurahashi, Hiroki
AU - Zackai, Elaine H.
AU - Emanuel, Beverly S.
PY - 2010/8/13
Y1 - 2010/8/13
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=77955570109&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77955570109&partnerID=8YFLogxK
U2 - 10.1016/j.ajhg.2010.07.002
DO - 10.1016/j.ajhg.2010.07.002
M3 - Article
C2 - 20673865
AN - SCOPUS:77955570109
VL - 87
SP - 209
EP - 218
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 2
ER -