Linked Life Data

8705416

Source:http://linkedlifedata.com/resource/pubmed/id/8705416

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1996-9-10
pubmed:abstractText
A case is presented in which the ultrasonographic detection of multiple congenital anomalies led to the diagnosis of Roberts syndrome in the fetus of a woman with a negative family history. The fetus had bilateral cleft lip and palate, bilateral amesomelia with ectrodactyly, a complex congenital heart disease and intrauterine growth retardation. These malformations are frequent in Roberts syndrome and, therefore, an amniocentesis was performed to detect the cytogenetic marker of this syndrome, premature centromere separation. This phenomenon could not be detected in metaphases from amniocytes, but it was present in peripheral lymphocytes cultured at birth. The clinical implications of these findings are discussed. Furthermore, to our knowledge, this represents the first case in which the suspicion of Roberts syndrome was raised by ultrasound in a family with a negative family history.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0960-7692
pubmed:author
pubmed:issnType
Print
pubmed:volume
7
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
208-10
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history.
pubmed:affiliation
Department of Gynecology and Obstetrics, Federico II University of Naples, Italy.
pubmed:publicationType
Journal Article, Case Reports