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  Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Ullmann, R., Turner, G., Kirchhoff, M., Chen, W., Tonge, B., Rosenberg, C., et al. (2007). Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Human Mutation: Variation, Databases, and Disease, 28(7), 674-682. doi:10.1002/humu.20546.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-81F0-7 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-81F1-5
Genre: Journal Article
Alternative Title : Hum. Mutat.

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 Creators:
Ullmann, Reinhard1, Author              
Turner, Gillian, Author
Kirchhoff, Maria, Author
Chen, Wei2, Author              
Tonge, Bruce, Author
Rosenberg, Carla, Author
Field, Michael, Author
Vianna-Morgante, Angela M., Author
Christie, Louise, Author
Krepischi-Santos, Ana C., Author
Banna, Lynn, Author
Brereton, Avril V., Author
Hill, Alyssa, Author
Bisgaard, Anne-Marie, Author
Müller, Ines1, Author              
Hultschig, Claus3, Author
Erdogan, Fikret2, Author              
Wieczorek, Georg3, Author
Ropers, Hans-Hilger2, 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              
3Max Planck Society, ou_persistent13              

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Free keywords: autism • mental retardation • array CGH • copy number variant
 Abstract: Autism and mental retardation (MR) are often associated, suggesting that these conditions are etiologically related. Recently, array-based comparative genomic hybridization (array CGH) has identified submicroscopic deletions and duplications as a common cause of MR, prompting us to search for such genomic imbalances in autism. Here we describe a 1.5-Mb duplication on chromosome 16p13.1 that was found by high-resolution array CGH in four severe autistic male patients from three unrelated families. The same duplication was identified in several variably affected and unaffected relatives. A deletion of the same interval was detected in three unrelated patients with MR and other clinical abnormalities. In one patient we revealed a further rearrangement of the 16p13 imbalance that was not present in his unaffected mother. Duplications and deletions of this 1.5-Mb interval have not been described as copy number variants in the Database of Genomic Variants and have not been identified in >600 individuals from other cohorts examined by high-resolution array CGH in our laboratory. Thus we conclude that these aberrations represent recurrent genomic imbalances which predispose to autism and/or MR

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Language(s): eng - English
 Dates: 2007-05-04
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Degree: -

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Title: Human Mutation : Variation, Databases, and Disease
  Alternative Title : Hum. Mutat.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 28 (7) Sequence Number: - Start / End Page: 674 - 682 Identifier: ISSN: 1098-1004