Linked Life Data

17351353

Source:http://linkedlifedata.com/resource/pubmed/id/17351353

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2007-3-12
pubmed:abstractText
We report a patient with a de-novo interstitial deletion of chromosome 6 with breakpoints at q24.3-q25.2. The patient presented with intra-abdominal testes, mild dysmorphic features, feeding difficulties in the first 3 years of life and normal development with no learning difficulties. To our knowledge this is the first report of a 6q interstitial deletion with these particular breakpoints. This is also the first patient with an interstitial 6q deletion and normal intellectual development. Cryptorchidism seems to be a recurrent finding in males with 6q deletions involving similar breakpoints.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0962-8827
pubmed:author
pubmed:issnType
Print
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
101-4
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Relatively mild phenotype in a patient with interstitial 6q24.3-q25.2 deletion.
pubmed:affiliation
Clinical Genetics Service, City Hospital, Nottingham, UK.
pubmed:publicationType
Journal Article, Case Reports