Source:http://linkedlifedata.com/resource/pubmed/id/10398247
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2000-5-17
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| pubmed:abstractText |
We report linkage analysis in a new family with nonspecific X-linked mental retardation, using 27 polymorphic markers covering the entire X-chromosome. We could assign the underlying disease gene, denoted MRX65, to the pericentromeric region, with flanking markers DXS573 in Xp11.3 and DXS990 in Xq21.33. A maximum LOD score of 3.64 was found at markers ALAS2 (Xp11.22) and DXS453 (Xq12) at straight theta = 0. Twenty-five of the 58 reported MRX families are linked to a region that is partially overlapping with the region reported here. Extension of the pedigree showed a number of unaffected distant relatives with haplotypes corresponding to the disease locus. Apparently, a new mutation in a female is causative for the disease in the family reported here. Furthermore, we show the importance of combining clinical, cytogenetic, and molecular studies since one of the family members, expected to be affected by the same genetic defect, has a 48,XXXY karyotype.
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| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Jul
|
| pubmed:issn |
0148-7299
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| pubmed:author |
pubmed-author:HamelB CBC,
pubmed-author:KnoersN VNV,
pubmed-author:KremerHH,
pubmed-author:MarimanE CEC,
pubmed-author:RopersH HHH,
pubmed-author:SmeetsD FDF,
pubmed-author:SmitsA PAP,
pubmed-author:YntemaH GHG,
pubmed-author:van BokhovenHH,
pubmed-author:van RoosmalenTT,
pubmed-author:van den HelmBB,
pubmed-author:van der BurgtII
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| pubmed:copyrightInfo |
Copyright 1999 Wiley-Liss, Inc.
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| pubmed:issnType |
Print
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| pubmed:day |
30
|
| pubmed:volume |
85
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
305-8
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| pubmed:dateRevised |
2011-11-17
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| pubmed:meshHeading |
pubmed-meshheading:10398247-Adult,
pubmed-meshheading:10398247-Body Weights and Measures,
pubmed-meshheading:10398247-Centromere,
pubmed-meshheading:10398247-Child,
pubmed-meshheading:10398247-DNA,
pubmed-meshheading:10398247-Family Health,
pubmed-meshheading:10398247-Female,
pubmed-meshheading:10398247-Genetic Linkage,
pubmed-meshheading:10398247-Humans,
pubmed-meshheading:10398247-Intellectual Disability,
pubmed-meshheading:10398247-Lod Score,
pubmed-meshheading:10398247-Male,
pubmed-meshheading:10398247-Microsatellite Repeats,
pubmed-meshheading:10398247-Middle Aged,
pubmed-meshheading:10398247-Mutation,
pubmed-meshheading:10398247-Pedigree,
pubmed-meshheading:10398247-Psychiatric Status Rating Scales,
pubmed-meshheading:10398247-Psychometrics,
pubmed-meshheading:10398247-X Chromosome
|
| pubmed:year |
1999
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| pubmed:articleTitle |
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.
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| pubmed:affiliation |
Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands.
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| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|