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  Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

Tzschach, A., Menzel, C., Erdogan, F., Schubert, M., Hoeltzenbein, M., Barbi, G., et al. (2007). Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. American Journal of Medical Genetics, 143 A(4), 333-337. doi:10.1002/ajmg.a.31601.

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Genre: Journal Article
Alternative Title : Am. J. Med. Genet.

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fulltext_ID=114070709&PLACEBO=IE.pdf (Any fulltext), 149KB
 
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 Creators:
Tzschach, Andreas1, Author           
Menzel, Corinna2, Author
Erdogan, Fikret1, Author           
Schubert, Marei2, Author
Hoeltzenbein, Maria2, Author
Barbi, Gotthold, Author
Petzenhauser, Christine, 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: deletion 7q21 • mental retardation • deafness • short stature • chromosome translocation • array CGH • ectrodactyly • split hand/split foot malformation • SHFM1 • DLX5 • DLX6
 Abstract: We report on a 42-year-old female patient with an interstitial 16 Mb deletion in 7q21.1-21.3 and a balanced reciprocal translocation between chromosomes 6 and 7 [karyotype 46,XX,t(6;7)(q23.3;q32.3)del(7)(q21.1q21.3)de novo]. We characterized the size and position of the deletion by tiling path array comparative genomic hybridization (CGH), and we mapped the translocation breakpoints on chromosomes 6 and 7 by FISH. The clinical features of this patient - severe mental retardation, short stature, microcephaly and deafness - are in accordance with previously reported patients with 7q21 deletions. Chromosome band 7q21.3 harbors a locus for split hand/split foot malformation (SHFM1), and part of this locus, including the SHFM1 candidate genes SHFM1, DLX5, and DLX6, is deleted. The absence of limb abnormalities in this patient suggests either a location of the SHFM1 causing factor distal to this deletion, or reduced penetrance of haploinsufficiency of a SHFM1 factor within the deleted interval.

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Language(s): eng - English
 Dates: 2007-01-17
 Publication Status: Issued
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Title: American Journal of Medical Genetics
  Alternative Title : Am. J. Med. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 143 A (4) Sequence Number: - Start / End Page: 333 - 337 Identifier: ISSN: 0148-7299