Linked Life Data

1673313

Source:http://linkedlifedata.com/resource/pubmed/id/1673313

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2-3
pubmed:dateCreated
1991-5-21
pubmed:abstractText
We investigated the family of a 3-year-old boy with manifestations of the Martin-Bell syndrome (MBS). His 17-year-old cousin had classic manifestations of MBS and was fragile X [fra(X)] positive. The 3-year-old boy was fra(X) negative. Linkage analysis with probes flanking the fra(X) region indicated that these cousins had the same X chromosome inherited from a normal grandfather. The DNA and cytogenetic analyses suggest that limitations in the ability to detect the fra(X) mutation cytogenetically may be responsible for fra(X)-negative MBS; or, alternatively, that a crossover occurred between a locus determining the MBS phenotype and one determining fra(X) expression.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
38
pubmed:geneSymbol
FRAXA
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
370-3
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:articleTitle
Cytogenetically negative, linkage positive "fragile X" syndrome.
pubmed:affiliation
Department of Human Genetics, New York State Office of Mental Retardation and Developmental Disability, Staten Island 10314.
pubmed:publicationType
Journal Article, Case Reports