Source:http://linkedlifedata.com/resource/pubmed/id/10398239
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
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| pubmed:dateCreated |
2000-5-17
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| pubmed:abstractText |
We identified a family with three males in two generations with moderate mental retardation. The two oldest were first cousins whose mothers were sisters. The third affected was a grandson through a daughter of one of the sisters, strongly suggesting X- linked inheritance. The affected males had prominent glabella, synophrys, prognathism, generalized hirsutism, and bilateral single palmar creases. All developed seizures in childhood. The two oldest have had a slow deterioration in neurological status with poor gait and balance and progressive weakness. No deterioration in their mental status has been observed. The oldest had cerebellar atrophy confirmed on computed tomography and magnetic resonance imaging scans of the brain and prolonged nerve conduction velocity. Two of the males had hypogammaglobulinemia (IgA deficient). Two-point linkage analysis using 27 microsatellite markers on the X chromosome resulted in a maximum LOD score of 2.23 at straight theta = 0 for locus DSX101. Recombination was observed at locus DSX1170 in Xq21.33 and locus DXS8067 in Xq23. We conclude that this family represents an X-linked disorder associated with a recognizable phenotype, progressive neurological deterioration, and variable hypogammaglobulinemia. The gene appears to lie between Xq21.33 and Xq23.
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| pubmed:grant | |
| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
0148-7299
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| pubmed:author | |
| pubmed:copyrightInfo |
Copyright 1999 Wiley-Liss, Inc.
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| pubmed:issnType |
Print
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| pubmed:day |
30
|
| pubmed:volume |
85
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
255-62
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| pubmed:dateRevised |
2011-11-17
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| pubmed:meshHeading |
pubmed-meshheading:10398239-Abnormalities, Multiple,
pubmed-meshheading:10398239-Adult,
pubmed-meshheading:10398239-Agammaglobulinemia,
pubmed-meshheading:10398239-Chromosome Mapping,
pubmed-meshheading:10398239-DNA,
pubmed-meshheading:10398239-Family Health,
pubmed-meshheading:10398239-Female,
pubmed-meshheading:10398239-Gait,
pubmed-meshheading:10398239-Genetic Linkage,
pubmed-meshheading:10398239-Humans,
pubmed-meshheading:10398239-Intellectual Disability,
pubmed-meshheading:10398239-Lod Score,
pubmed-meshheading:10398239-Male,
pubmed-meshheading:10398239-Microsatellite Repeats,
pubmed-meshheading:10398239-Middle Aged,
pubmed-meshheading:10398239-Pedigree,
pubmed-meshheading:10398239-Seizures,
pubmed-meshheading:10398239-Syndrome,
pubmed-meshheading:10398239-X Chromosome
|
| pubmed:year |
1999
|
| pubmed:articleTitle |
X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23.
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| pubmed:affiliation |
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada. chudley@cc.umanitoba.ca
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| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
|