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Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication
Author(s) -
Mosca A.L.,
Callier P.,
Faivre L.,
Marle N.,
Mejean N.,
ThauvinRobinet C.,
MasurelPaulet A.,
Madinier N.,
Durand C.,
Couillaud G.,
Ragot S.,
Huet F.,
Teyssier J.R.,
Mugneret F.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32665
Subject(s) - dup , polymicrogyria , gene duplication , genetics , biology , global developmental delay , copy number variation , chromosome , gene , neuroscience , epilepsy , phenotype , genome
Abstract Polymicrogyria (PMG) is a relatively common malformation of the cortex for which the pathogenesis remains poorly understood. Both acquired and genetic causes are known, and to date more than 70 cases of PMG have been associated with chromosomal abnormalities. Here we report on a 12‐year‐old girl presenting with asymmetrical PMG predominantly affecting the right occipital lobe. She was the only child of consanguineous parents. At 7 years of age she was referred for mental retardation with speech delay and seizures. Cytogenetic studies of the patient revealed an inverted 9p duplication/deletion and bacterial artificial chromosomes (BACs)‐array also showed a 22q11.2 microduplication confirmed by quantitative PCR. This case is of interest in the search for candidate genes and emphasizes the importance of the 22q11 region in PMG. It also highlights the efficiency of BACs‐array in detecting complex rearrangements. © 2009 Wiley‐Liss, Inc.