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  Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.

Tzschach, A., Menzel, C., Erdogan, F., Istifli, E. S., Rieger, M., Ovens-Raeder, A., et al. (2010). Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. American Journal of Medical Genetics. Part A., 152A(4), 1008-1012. doi:10.1002/ajmg.a.33343.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7B85-C Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7B86-A
Genre: Journal Article
Alternative Title : Am. J. Med. Genet. A

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 Creators:
Tzschach, Andreas1, Author              
Menzel, Corinna2, Author
Erdogan, Fikret1, Author              
Istifli, Erman Salih2, Author
Rieger, Martin, Author
Ovens-Raeder, Angela, Author
Macke, Alfons, Author
Ropers, Hans-Hilger1, Author              
Ullmann, Reinhard3, Author              
Kalscheuer, Vera M.4, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              
3Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
4Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: del(4)(q32.1-32.3); mental retardation; array CGH; complex chromosome rearrangement; GLRB; GRIA2
 Abstract: Interstitial deletions of chromosome band 4q32 are rare. We report on a 22-year-old female patient with a de novo interstitial deletion of chromosome 4q32 and a balanced translocation t(2;5)(p21;q12.1). Clinical problems of the patient comprised mild to moderate mental retardation, psychosis, obesity, broad nasal root, sparse lateral eyebrows, thin upper lip, short philtrum, micrognathia, and strabismus. Analysis by whole genome array CGH using an Agilent 244K oligonucleotide array and subsequent FISH using BAC clones from the 4q32 region revealed an unexpectedly complex rearrangement comprising a deletion of approximately 10 Mb in 4q32.1q32.3 and the insertion of two small fragments of 0.8 and 0.11 Mb originating from the derivative chromosome 4q32 into derivative chromosome 5q. The breakpoints of the t(2;5) translocation were mapped by BAC-FISH; no genes were disrupted by these breakpoints. The deleted interval in 4q32 harbored more than 30 genes, and haploinsufficiency of one or several of these genes is likely to have caused the clinical problems of the patient. Candidate genes for cognitive defects are GRIA2, GLRB, NPY1R, and NPY5R. In conclusion, this patient increases our knowledge about the phenotypic consequences of interstitial 4q32 deletions. Reports of patients with overlapping deletions will be needed to elucidate the role of individual genes and to establish genotype–phenotype correlations

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Language(s): eng - English
 Dates: 2010-03-26
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
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Title: American Journal of Medical Genetics. Part A.
  Alternative Title : Am. J. Med. Genet. A
Source Genre: Journal
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Pages: - Volume / Issue: 152A (4) Sequence Number: - Start / End Page: 1008 - 1012 Identifier: ISSN: 1552-4825