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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1997-5-8
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pubmed:abstractText |
A large family (MRX48) with a nonspecific X-linked mental retardation condition is described. An X-linked semidominant inheritance is suggested by the segregation in three generations of a moderate to severe mental retardation in seven males and by a milder intellectual impairment in two females, without any specific clinical, radiological, or biological feature. Two-point linkage analysis demonstrated significant linkage between the disorder and several markers in Xq28 (maximum LOD score [Zmax] = 2.71 at recombination fraction [theta] = 0); multipoint linkage analyses confirmed the significant linkage with a Zmax of 3.3 at theta = 0, at DXS1684. A recombination event observed with the flanking marker DXS8011 delineates a locus between this marker and the telomere. The approximate length of this locus is 8-9 cM, corresponding to 5.5-6 Mb. In an attempt to explain the variable intellectual impairment in females, we examined X-chromosome inactivation in all females of the family. Inactivation patterns in lymphocytes were random or moderately skewed, and no correlation between the phenotypic status and a specific inactivation pattern was observed. The interval of assignment noted in this family overlaps with five MRX loci previously reported in Xq28.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-1281384,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-1303175,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-1362558,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-1642232,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-1870093,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-1944467,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-2983207,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-6585139,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-7211956,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-7536393,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-7545953,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-7881410,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-8317490,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-8334699,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-8600387,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-8673085,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-8817333,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-8826443,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-8826462,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-8826463,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-8826465,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-8826466,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9106537-8826475
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0002-9297
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pubmed:author |
pubmed-author:BachnerLL,
pubmed-author:BeldjordCC,
pubmed-author:BienvenuTT,
pubmed-author:BilluartPP,
pubmed-author:BoysLL,
pubmed-author:CarriéAA,
pubmed-author:ChellyJJ,
pubmed-author:KahnAA,
pubmed-author:PonsotGG,
pubmed-author:VinetM CMC,
pubmed-author:des PortesVV
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pubmed:issnType |
Print
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pubmed:volume |
60
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
903-9
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:9106537-Adult,
pubmed-meshheading:9106537-Aged,
pubmed-meshheading:9106537-Child, Preschool,
pubmed-meshheading:9106537-Chromosome Mapping,
pubmed-meshheading:9106537-Dosage Compensation, Genetic,
pubmed-meshheading:9106537-Female,
pubmed-meshheading:9106537-France,
pubmed-meshheading:9106537-Genes, Dominant,
pubmed-meshheading:9106537-Genetic Linkage,
pubmed-meshheading:9106537-Genetic Markers,
pubmed-meshheading:9106537-Humans,
pubmed-meshheading:9106537-Intellectual Disability,
pubmed-meshheading:9106537-Lod Score,
pubmed-meshheading:9106537-Male,
pubmed-meshheading:9106537-Psychological Tests,
pubmed-meshheading:9106537-Psychometrics,
pubmed-meshheading:9106537-Sex Chromosome Aberrations,
pubmed-meshheading:9106537-X Chromosome
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pubmed:year |
1997
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pubmed:articleTitle |
A gene for dominant nonspecific X-linked mental retardation is located in Xq28.
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pubmed:affiliation |
INSERM U129-ICGM, Faculté de Médecine Cochin, Paris, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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