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  Genetik der nichtsyndromalen geistigen Behinderung

Tzschach, A. (2009). Genetik der nichtsyndromalen geistigen Behinderung. Medizinische Genetik, 21(2), 231-236. doi:10.1007/s11825-009-0160-0.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D80-6 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D81-4
Genre: Journal Article

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 Creators:
Tzschach, Andreas1, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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Free keywords: Nonsyndromic mental retardation; X-linked MR; Autosomal-recessive MR; Autosomal-dominant MR; Recurrence risk
 Abstract: Most patients with mental retardation (MR) are nonsyndromic; i.e. they either have no accompanying clinical, radiological, or metabolic abnormalities, or their additional features are not specific enough to enable allocation to a recognizable malformation syndrome. Numerous novel disease genes for X-chromosomal nonsyndromic MR (NS-MR) have been elucidated in recent years, and research into autosomal forms of NS-MR has yielded first results. Both forms have turned out to be characterized by extreme genetic heterogeneity. Routine diagnostic mutation screening in the known NS-MR genes is currently not feasible in sporadic patients but will be facilitated by novel sequencing technologies in the near future. Patients with familial NS-MR should be offered inclusion in ongoing research programmes. Several X-chromosomal NS-MR genes demand consideration in the routine diagnostic workup of MR patients because they overlap phenotypically with syndromic forms of MR.

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Language(s): deu - German
 Dates: 2009-06
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Degree: -

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Title: Medizinische Genetik
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 21 (2) Sequence Number: - Start / End Page: 231 - 236 Identifier: ISSN: 0936-5931