Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1997-8-19
pubmed:abstractText
A girl with short stature and brachydactyly had a fragile site at 16q22. Her mother had the same phenotype and the fragile site, too. These cases open the discussion of a possible association between a rare fragile site and an abnormal phenotype. Fragile sites are divided into two major groups, those which are rate and those which are common. The fragile site at 16q22 is a rare inductible fragile site. It is possible that the association between brachydactyly and the fragile site in a mother and her daughter may be due to chance. However rare fragile sites predispose to phenotypic abnormalities. The abnormal features in these two cases could be the result of the disruption of a gene involved in a skeletal development.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1015-8146
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
115-20
pubmed:dateRevised
2006-7-6
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Brachydactyly and short stature in a mother and her daughter with a fragile site at 16q22.
pubmed:affiliation
Service de Génétique Médicale, Centre Hospitalo Universitaire Strasbourg, France.
pubmed:publicationType
Journal Article, Case Reports