Linked Life Data

2757360

Source:http://linkedlifedata.com/resource/pubmed/id/2757360

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1989-9-1
pubmed:abstractText
A newborn male patient with a partial trisomy 13q22----qter, derived from a maternal translocation (13;15)(q22;p11) is reported. This non-frequent chromosomal anomaly leads to a characteristic phenotype easily recognizable from other craniosynostosis syndromes, in which the cranial malformation is often associated with auricular and limb defects. This phenotype includes: cranial malformation, characteristic facies, mental and developmental retardation, urologic and genital anomalies, polydactily, abnormal muscular tonicity and convulsive status. Our patient, a "pure" partial trisomy, without other associated chromosomal anomaly, is compared with the published cases.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0003-3995
pubmed:author
pubmed:issnType
Print
pubmed:volume
32
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
114-6
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
Partial trisomy 13q22----qter. A new case.
pubmed:affiliation
Departamento de Pediatría, Facultad de Medicina, Campus Universitario San Vincente del Raspeig, Alicante, Spain.
pubmed:publicationType
Journal Article, Case Reports