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

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

doi:10.1016/j.ajhg.2010.07.002

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

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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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 (US)
Pages (from-to)	209-218
Number of pages	10
Journal	American journal of human genetics
Volume	87
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2010.07.002
State	Published - Aug 13 2010
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Sheridan, M. B., Kato, T., Haldeman-Englert, C., Jalali, G. R., Milunsky, J. M., Zou, Y., Klaes, R., Gimelli, G., Gimelli, S., Gemmill, R. M., Drabkin, H. A., Hacker, A. M., Brown, J., Tomkins, D., Shaikh, T. H., Kurahashi, H., Zackai, E. H., & Emanuel, B. S. (2010). A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: The t(8;22)(q24.13;q11.21). American journal of human genetics, 87(2), 209-218. https://doi.org/10.1016/j.ajhg.2010.07.002

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 2010, '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, pp. 209-218. https://doi.org/10.1016/j.ajhg.2010.07.002

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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.",

author = "Sheridan, {Molly B.} and Takema Kato and Chad Haldeman-Englert and Jalali, {G. Reza} and Milunsky, {Jeff M.} and Ying Zou and Ruediger Klaes and Georgio Gimelli and Stefania Gimelli and Gemmill, {Robert M.} and Drabkin, {Harry A.} and Hacker, {April M.} and Julia Brown and David Tomkins and Shaikh, {Tamim H.} and Hiroki Kurahashi and Zackai, {Elaine H.} and Emanuel, {Beverly S.}",

note = "Funding Information: The authors wish to thank C. Coutifaris and E. Wigo for providing sperm samples from healthy males, E. Geiger and the Nucleic Acid and Protein Core at the Children's Hospital of Philadelphia for technical assistance, and the patients and their families for their willingness to participate in this study. This study was supported by grants CA39926 and HD26979 and funds from the Charles E.H. Upham chair in pediatrics (to B.S.E.). ",

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doi = "10.1016/j.ajhg.2010.07.002",

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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.

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AU - Tomkins, David

AU - Shaikh, Tamim H.

AU - Kurahashi, Hiroki

AU - Zackai, Elaine H.

AU - Emanuel, Beverly S.

N1 - Funding Information: The authors wish to thank C. Coutifaris and E. Wigo for providing sperm samples from healthy males, E. Geiger and the Nucleic Acid and Protein Core at the Children's Hospital of Philadelphia for technical assistance, and the patients and their families for their willingness to participate in this study. This study was supported by grants CA39926 and HD26979 and funds from the Charles E.H. Upham chair in pediatrics (to B.S.E.).

PY - 2010/8/13

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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.

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

Abstract

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