Linked Life Data

18452363

Source:http://linkedlifedata.com/resource/pubmed/id/18452363

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2008-5-2
pubmed:abstractText
The authors report the case of a Japanese girl with interstitial deletion of chromosome 12q15-q21.2 who had multiple congenital anomalies including bilateral cleft lip and palate (BCLP) with intrauterine onset of growth retardation and severe psychomotor developmental delay. Only two other patients with a similar deletion have been reported previously. However, these two patients showed such different clinical features that defining the karyotype-phenotype correlation has remained unfeasible. The additional case presented here reveals that two of the three cases with an overlapping deletion in 12q show the phenotype of BCLP, suggesting the correlation between this area of gene deletion and cleft lip and palate.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
D
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1055-6656
pubmed:author
pubmed:issnType
Print
pubmed:volume
45
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
325-8
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
12q interstitial deletion with bilateral cleft lip and palate: case report and literature review.
pubmed:affiliation
Department of Oral and Maxillofacial Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.
pubmed:publicationType
Journal Article, Review, Case Reports