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  Molecular cytogenetic analysis of a de novo interstitial deletion 5q23.3q31.2 and its phenotypic consequences

Tzschach, A., Krause-Plonka, I., Menzel, C., Kalscheuer, V. M., Toennies, H., Scherthan, H., et al. (2006). Molecular cytogenetic analysis of a de novo interstitial deletion 5q23.3q31.2 and its phenotypic consequences. American Journal of Medical Genetics, 140(5), 496-502. doi:10.1002/ajmg.a.31105.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-849B-6 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-849C-4
Genre: Journal Article
Alternative Title : Am. J. Med. Genet.

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fulltext_ID=112397449&PLACEBO=IE.pdf (Any fulltext), 181KB
 
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 Creators:
Tzschach, Andreas1, Author              
Krause-Plonka, Ines, Author
Menzel, Corinna2, Author
Kalscheuer, Vera M.3, Author              
Toennies, Holger, Author
Scherthan, Harry1, Author              
Knoblauch, Andreas, Author
Radke, Michael, Author
Ropes, Hans-Hilger2, Author
Hoeltzenbein, Maria2, 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              
3Chromosome 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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 Abstract: We report a -year-old boy with a constitutional interstitial deletion of 5q,46,XY,del(5)(q23.3q31.2) de novo. Clinical manifestations in this patient included failure to thrive, psychomotor retardation, mild facial dysmorphic features, and long and slender fingers and toes. The precise location and extent (9.5 Mb) of the deletion was determined by fluorescence in situ hybridization (FISH) using 19 YAC and BAC clones. Comparison of the present patient with six other patients with deletions of chromosomal bands 5q22-5q31 allowed further delineation of a constitutional del5q22q31 syndrome. The main features of this syndrome are psychomotor retardation, failure to thrive, hypotonia, hypoplastic muscles, cleft or high arched palate, low-set and dysplastic ears, flat nasal bridge, downslanting palpebral fissures, hypertelorism, anteverted nostrils, and micro- and/or retrognathia

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Language(s): eng - English
 Dates: 2006-02-06
 Publication Status: Published in print
 Pages: -
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 Identifiers: eDoc: 308877
DOI: 10.1002/ajmg.a.31105
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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: 140 (5) Sequence Number: - Start / End Page: 496 - 502 Identifier: ISSN: 1096-8628