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  Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.

Møller, R. S., Hansen, C. P., Jackson, G. D., Ullmann, R., Ropers, H.-H., Tommerup, N., et al. (2007). Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe. Clinical Genetics, 72(6), 593-598. doi:10.1111/j.1399-0004.2007.00901.x.

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Genre: Journal Article
Alternative Title : Clin. Genet.

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Møller, R. S., Author
Hansen, C. P., Author
Jackson, G. D., Author
Ullmann, Reinhard1, Author           
Ropers, Hans-Hilger2, Author           
Tommerup, Niels, Author
Tümer, Z., Author
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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 Abstract: In this study, we present a 38-year-old woman with an interstitial deletion of 4p15.1-15.3, mild mental retardation, epilepsy and polymicrogyria adjacent to an arachnoid cyst of the left temporal lobe. The deletion was ascertained through array-comparative genome hybridization screening of patients with epilepsy and brain malformations. To date, about 35 patients with cytogenetically visible deletions involving 4p15 and without Wolf-Hirschhorn syndrome have been described, but the extent of the deletions has not been determined in the majority of these cases. The clinical manifestations of the patient described in this study were similar but not identical to the previously reported cases with 4p15 interstitial deletions. This finding indicates the presence of one or more genes involved in brain development and epilepsy in this chromosome region.

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Language(s): eng - English
 Dates: 2007-12-01
 Publication Status: Issued
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Title: Clinical Genetics
  Alternative Title : Clin. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 72 (6) Sequence Number: - Start / End Page: 593 - 598 Identifier: ISSN: 0009-9163