Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1997-6-18
pubmed:abstractText
We report a case on a female newborn child with a deletion of the 4q33qter region. The patient showed facial dysmorphisms, cleft palate and congenital cardiac defect. In order to contribute to a better definition of the 4q33qter deletion syndrome we have compared the clinical findings of our patient with those in nine reported cases. The characteristic symptoms of these patients seem to be: mental retardation, upper slanting of the palpebral fissures, depressed nasal bridge, low set/dysplastic ears, cleft palate, micrognathia, dysmorphic hands and feet.
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
39-42
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Del(4)(pter-->q33:) case report and review of the literature.
pubmed:affiliation
Cattedra di Genetica Medica, Università, La Sapienza, Roma.
pubmed:publicationType
Journal Article, Review, Case Reports