Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2

William B. Dobyns; Ghayda Mirzaa; Susan L. Christian; Kristin Petras; Jessica Roseberry; Gary D. Clark; Cynthia J.R. Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J. Zand; Fuki M. Hisama; Christopher A. Walsh; Richard J. Leventer; Christa L. Martin; Marzena Gajecka; Lisa G. Shaffer

doi:10.1002/ajmg.a.32293

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2

William B. Dobyns, Ghayda Mirzaa, Susan L. Christian, Kristin Petras, Jessica Roseberry, Gary D. Clark, Cynthia J.R. Curry, Donna McDonald-McGinn, Livija Medne, Elaine Zackai, Julie Parsons, Dina J. Zand, Fuki M. Hisama, Christopher A. Walsh, Richard J. Leventer, Christa L. Martin, Marzena Gajecka, Lisa G. Shaffer

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88 Scopus citations

Abstract

Polymicrogyria is a malformation of cortical development characterized by loss of the normal gyral pattern, which is replaced by many small and infolded gyri separated by shallow, partly fused sulci, and loss of middle cortical layers. The pathogenesis is unknown, yet emerging data supports the existence of several loci in the human genome. We report on the clinical and brain imaging features, and results of cytogenetic and molecular genetic studies in 29 patients with polymicrogyria associated with structural chromosome rearrangements. Our data map new polymicrogyria loci in chromosomes 4p36.3, 2p16.1-p23, 4q21.21-q22.1, 6q26-q27, and 21q21.3-q22.1, and possible loci in 1q44 and 18p as well. Most and possibly all of these loci demonstrate incomplete penetrance and variable expressivity. We anticipate that these data will serve as the basis for ongoing efforts to identify the causal genes located in these regions.

Original language	English (US)
Pages (from-to)	1637-1654
Number of pages	18
Journal	American Journal of Medical Genetics, Part A
Volume	146
Issue number	13
DOIs	https://doi.org/10.1002/ajmg.a.32293
State	Published - Jul 1 2008
Externally published	Yes

Keywords

Chromosome 18p
Chromosome 1p36
Chromosome 1q4
Chromosome 21q2
Chromosome 2p
Chromosome 4q2
Chromosome 6q2
Deletion
Duplication
Polymicrogyria

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Dobyns, W. B., Mirzaa, G., Christian, S. L., Petras, K., Roseberry, J., Clark, G. D., Curry, C. J. R., McDonald-McGinn, D., Medne, L., Zackai, E., Parsons, J., Zand, D. J., Hisama, F. M., Walsh, C. A., Leventer, R. J., Martin, C. L., Gajecka, M., & Shaffer, L. G. (2008). Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. American Journal of Medical Genetics, Part A, 146(13), 1637-1654. https://doi.org/10.1002/ajmg.a.32293

Dobyns, WB, Mirzaa, G, Christian, SL, Petras, K, Roseberry, J, Clark, GD, Curry, CJR, McDonald-McGinn, D, Medne, L, Zackai, E, Parsons, J, Zand, DJ, Hisama, FM, Walsh, CA, Leventer, RJ, Martin, CL, Gajecka, M & Shaffer, LG 2008, 'Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2', American Journal of Medical Genetics, Part A, vol. 146, no. 13, pp. 1637-1654. https://doi.org/10.1002/ajmg.a.32293

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title = "Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2",

abstract = "Polymicrogyria is a malformation of cortical development characterized by loss of the normal gyral pattern, which is replaced by many small and infolded gyri separated by shallow, partly fused sulci, and loss of middle cortical layers. The pathogenesis is unknown, yet emerging data supports the existence of several loci in the human genome. We report on the clinical and brain imaging features, and results of cytogenetic and molecular genetic studies in 29 patients with polymicrogyria associated with structural chromosome rearrangements. Our data map new polymicrogyria loci in chromosomes 4p36.3, 2p16.1-p23, 4q21.21-q22.1, 6q26-q27, and 21q21.3-q22.1, and possible loci in 1q44 and 18p as well. Most and possibly all of these loci demonstrate incomplete penetrance and variable expressivity. We anticipate that these data will serve as the basis for ongoing efforts to identify the causal genes located in these regions.",

keywords = "Chromosome 18p, Chromosome 1p36, Chromosome 1q4, Chromosome 21q2, Chromosome 2p, Chromosome 4q2, Chromosome 6q2, Deletion, Duplication, Polymicrogyria",

author = "Dobyns, {William B.} and Ghayda Mirzaa and Christian, {Susan L.} and Kristin Petras and Jessica Roseberry and Clark, {Gary D.} and Curry, {Cynthia J.R.} and Donna McDonald-McGinn and Livija Medne and Elaine Zackai and Julie Parsons and Zand, {Dina J.} and Hisama, {Fuki M.} and Walsh, {Christopher A.} and Leventer, {Richard J.} and Martin, {Christa L.} and Marzena Gajecka and Shaffer, {Lisa G.}",

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T1 - Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2

AU - Dobyns, William B.

AU - Mirzaa, Ghayda

AU - Christian, Susan L.

AU - Petras, Kristin

AU - Roseberry, Jessica

AU - Clark, Gary D.

AU - Curry, Cynthia J.R.

AU - McDonald-McGinn, Donna

AU - Medne, Livija

AU - Zackai, Elaine

AU - Parsons, Julie

AU - Zand, Dina J.

AU - Hisama, Fuki M.

AU - Walsh, Christopher A.

AU - Leventer, Richard J.

AU - Martin, Christa L.

AU - Gajecka, Marzena

AU - Shaffer, Lisa G.

PY - 2008/7/1

Y1 - 2008/7/1

N2 - Polymicrogyria is a malformation of cortical development characterized by loss of the normal gyral pattern, which is replaced by many small and infolded gyri separated by shallow, partly fused sulci, and loss of middle cortical layers. The pathogenesis is unknown, yet emerging data supports the existence of several loci in the human genome. We report on the clinical and brain imaging features, and results of cytogenetic and molecular genetic studies in 29 patients with polymicrogyria associated with structural chromosome rearrangements. Our data map new polymicrogyria loci in chromosomes 4p36.3, 2p16.1-p23, 4q21.21-q22.1, 6q26-q27, and 21q21.3-q22.1, and possible loci in 1q44 and 18p as well. Most and possibly all of these loci demonstrate incomplete penetrance and variable expressivity. We anticipate that these data will serve as the basis for ongoing efforts to identify the causal genes located in these regions.

AB - Polymicrogyria is a malformation of cortical development characterized by loss of the normal gyral pattern, which is replaced by many small and infolded gyri separated by shallow, partly fused sulci, and loss of middle cortical layers. The pathogenesis is unknown, yet emerging data supports the existence of several loci in the human genome. We report on the clinical and brain imaging features, and results of cytogenetic and molecular genetic studies in 29 patients with polymicrogyria associated with structural chromosome rearrangements. Our data map new polymicrogyria loci in chromosomes 4p36.3, 2p16.1-p23, 4q21.21-q22.1, 6q26-q27, and 21q21.3-q22.1, and possible loci in 1q44 and 18p as well. Most and possibly all of these loci demonstrate incomplete penetrance and variable expressivity. We anticipate that these data will serve as the basis for ongoing efforts to identify the causal genes located in these regions.

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KW - Chromosome 1p36

KW - Chromosome 1q4

KW - Chromosome 21q2

KW - Chromosome 2p

KW - Chromosome 4q2

KW - Chromosome 6q2

KW - Deletion

KW - Duplication

KW - Polymicrogyria

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JO - American Journal of Medical Genetics, Part A

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ER -

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2

Abstract

Keywords

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