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

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Dobyns, William B. Mirzaa, Ghayda Christian, Susan L. Petras, Kristin Roseberry, Jessica Clark, Gary D. Curry, Cynthia J. R. McDonald-McGinn, Donna Medne, Livija Zackai, Elaine Parsons, Julie Zand, Dina J. Hisama, Fuki M. Walsh, Christopher A. Leventer, Richard J. Martin, Christa L. Gajecka, Marzena Shaffer, Lisa G.
Description	Country affiliation: United States Author Affiliation: Dobyns WB ( Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA. wbd@bsd.uchicago.edu)
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 1p36.3, 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.
File Format	HTM / HTML
ISSN	15524825
e-ISSN	15524833
DOI	10.1002/ajmg.a.32293
Journal	American Journal of Medical Genetics Part A
Issue Number	13
Volume Number	146A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2008-07-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Chromosome Aberrations Malformations Of Cortical Development Genetics Abnormalities, Multiple Pathology Adolescent Aneuploidy Brain Child, Preschool Chromosome Breakage Chromosome Deletion Chromosomes, Artificial, Bacterial Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 21 Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 6 In Situ Hybridization, Fluorescence Infant Infant, Newborn Karyotyping Phenotype Translocation, Genetic Research Support, N.i.h., Extramural
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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