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  A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH

Klopocki, E., Graul-Neumann, L. M., Grieben, U., Tönnies, H., Ropers, H.-H., Horn, D., et al. (2008). A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. European Journal of Pediatrics, 167(8), 903-908. doi:10.1007/s00431-007-0616-.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7F5B-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7F5C-8
Genre: Journal Article
Alternative Title : Eur J Pediatr

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 Creators:
Klopocki, Eva1, Author              
Graul-Neumann, Luitgard M., Author
Grieben, Ulrike, Author
Tönnies, Holger, Author
Ropers, Hans-Hilger2, Author              
Horn, Denise, Author
Mundlos, Stefan1, Author              
Ullmann, Reinhard3, Author              
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

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Free keywords: 15q24 - Microdeletion - Array CGH
 Abstract: We report on a 10-year-old patient with developmental delay, craniofacial dysmorphism, digital and genital abnormalities. In addition, muscular hypotonia, strabism, and splenomegaly were observed; inguinal and umbilical hernias were surgically corrected. Mucopolysaccharidoses and CDG syndromes could not be found. Chromosome analysis revealed a normal male karyotype (46,XY). A more detailed investigation of the patient’s genomic DNA by microarray-based comparative genomic hybridization (array CGH) detected an interstitial 3.7 Mb deletion ranging from 15q24.1 to 15q24.3 which was shown to be de novo. Interstitial deletions involving 15q24 are rare. Sharp et al. (Hum Mol Genet 16:567–572, 2007) recently characterized a recurrent 15q24 microdeletion syndrome with breakpoints in regions of segmental duplications. The de novo microdeletion described here colocalizes with the minimal deletion region of the 15q24 microdeletion syndrome. The distinct clinical phenotype associated with this novel microdeletion syndrome is similar to the phenotype of our patient with respect to specific facial features, developmental delay, microcephaly, digital abnormalities, and genital abnormalities in males. We present a genotype–phenotype correlation and comparison with patients from the literature.

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Language(s): eng - English
 Dates: 2008-08
 Publication Status: Published in print
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Title: European Journal of Pediatrics
  Alternative Title : Eur J Pediatr
Source Genre: Journal
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Pages: - Volume / Issue: 167 (8) Sequence Number: - Start / End Page: 903 - 908 Identifier: ISSN: 0340-6199