Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

Blake C. Ballif; Sara A. Hornor; Elizabeth Jenkins; Suneeta Madan-Khetarpal; Urvashi Surti; Kelly E. Jackson; Alexander Asamoah; Pamela L. Brock; Gordon C. Gowans; Robert L. Conway; John M. Graham; Livija Medne; Elaine H. Zackai; Tamim H. Shaikh; Joel Geoghegan; Rebecca R. Selzer; Peggy S. Eis; Bassem A. Bejjani; Lisa G. Shaffer

doi:10.1038/ng2107

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

Blake C. Ballif, Sara A. Hornor, Elizabeth Jenkins, Suneeta Madan-Khetarpal, Urvashi Surti, Kelly E. Jackson, Alexander Asamoah, Pamela L. Brock, Gordon C. Gowans, Robert L. Conway, John M. Graham, Livija Medne, Elaine H. Zackai, Tamim H. Shaikh, Joel Geoghegan, Rebecca R. Selzer, Peggy S. Eis, Bassem A. Bejjani, Lisa G. Shaffer

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171 Scopus citations

Abstract

We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2-p12.2 constitute a previously undescribed syndrome.

Original language	English
Pages (from-to)	1071-1073
Number of pages	3
Journal	Nature Genetics
Volume	39
Issue number	9
DOIs	https://doi.org/10.1038/ng2107
State	Published - Sep 2007

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Ballif, B. C., Hornor, S. A., Jenkins, E., Madan-Khetarpal, S., Surti, U., Jackson, K. E., Asamoah, A., Brock, P. L., Gowans, G. C., Conway, R. L., Graham, J. M., Medne, L., Zackai, E. H., Shaikh, T. H., Geoghegan, J., Selzer, R. R., Eis, P. S., Bejjani, B. A., & Shaffer, L. G. (2007). Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nature Genetics, 39(9), 1071-1073. https://doi.org/10.1038/ng2107

@article{cfe6afe87075458f92fb268ecad84255,

title = "Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2",

abstract = "We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2-p12.2 constitute a previously undescribed syndrome.",

author = "Ballif, {Blake C.} and Hornor, {Sara A.} and Elizabeth Jenkins and Suneeta Madan-Khetarpal and Urvashi Surti and Jackson, {Kelly E.} and Alexander Asamoah and Brock, {Pamela L.} and Gowans, {Gordon C.} and Conway, {Robert L.} and Graham, {John M.} and Livija Medne and Zackai, {Elaine H.} and Shaikh, {Tamim H.} and Joel Geoghegan and Selzer, {Rebecca R.} and Eis, {Peggy S.} and Bejjani, {Bassem A.} and Shaffer, {Lisa G.}",

year = "2007",

month = sep,

doi = "10.1038/ng2107",

language = "English",

volume = "39",

pages = "1071--1073",

journal = "Nature Genetics",

issn = "1061-4036",

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Ballif, BC, Hornor, SA, Jenkins, E, Madan-Khetarpal, S, Surti, U, Jackson, KE, Asamoah, A, Brock, PL, Gowans, GC, Conway, RL, Graham, JM, Medne, L, Zackai, EH, Shaikh, TH, Geoghegan, J, Selzer, RR, Eis, PS, Bejjani, BA & Shaffer, LG 2007, 'Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2', Nature Genetics, vol. 39, no. 9, pp. 1071-1073. https://doi.org/10.1038/ng2107

TY - JOUR

T1 - Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

AU - Ballif, Blake C.

AU - Hornor, Sara A.

AU - Jenkins, Elizabeth

AU - Madan-Khetarpal, Suneeta

AU - Surti, Urvashi

AU - Jackson, Kelly E.

AU - Asamoah, Alexander

AU - Brock, Pamela L.

AU - Gowans, Gordon C.

AU - Conway, Robert L.

AU - Graham, John M.

AU - Medne, Livija

AU - Zackai, Elaine H.

AU - Shaikh, Tamim H.

AU - Geoghegan, Joel

AU - Selzer, Rebecca R.

AU - Eis, Peggy S.

AU - Bejjani, Bassem A.

AU - Shaffer, Lisa G.

PY - 2007/9

Y1 - 2007/9

N2 - We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2-p12.2 constitute a previously undescribed syndrome.

AB - We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2-p12.2 constitute a previously undescribed syndrome.

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U2 - 10.1038/ng2107

DO - 10.1038/ng2107

M3 - Article

C2 - 17704777

AN - SCOPUS:34548339637

SN - 1061-4036

VL - 39

SP - 1071

EP - 1073

JO - Nature Genetics

JF - Nature Genetics

IS - 9

ER -

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

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