Linked Life Data

21595002

Source:http://linkedlifedata.com/resource/pubmed/id/21595002

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2011-5-19
pubmed:abstractText
Terminal deletions on the X chromosome in female patients may be detected as part of a work up for infertility, premature ovarian insufficiency (POI) or in screening for fragile X carrier status. We present the clinical, cytogenetic and molecular features of four patients with terminal deletions of chromosome X that include the FMR1 gene, and discuss biological and genetic implications of this deletion. Providers should be aware of possible identification of Xq27 deletions as a potential outcome of fragile X screening.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1552-4833
pubmed:author
pubmed:copyrightInfo
Copyright © 2011 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
155A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
870-4
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: a case series.
pubmed:affiliation
The Center for Congenital Disorders, The Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA. naomi_yachelevich@URMC.rochester.edu
pubmed:publicationType
Journal Article, Case Reports