Linked Life Data

8953635

Source:http://linkedlifedata.com/resource/pubmed/id/8953635

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
1997-3-6
pubmed:abstractText
We present the first case of an infant with paternally-derived mosaic trisomy 16. Amniocentesis following an elevated maternal serum alpha-fetoprotein level and early fetal growth restriction at 19 weeks detected a high level of mosaicism with 25/33 colonies demonstrating trisomy 16 and 8/33 colonies with a normal 46,XX karyotype. Molecular studies revealed a paternal origin of the trisomy which was present in amniotic fluid cells, representing either a post-zygotic error or a meiosis II non-disjunction without crossing-over. In addition, there was normal biparental inheritance in the normal cell line. The symmetrically growth-restricted fetus was closely monitored for the remainder of the gestation. Decreased fetal movements at 36 weeks in conjunction with electronic fetal monitoring showing evidence of fetal distress necessitated abdominal delivery. Severe growth restriction, mild facial dysmorphism, and cardiac anomalies were identified. Microsatellite analysis demonstrated biparental inheritance in skin fibroblasts with a paternal origin for the trisomy in the placenta. Follow-up cytogenetic studies of additional tissues revealed 85 per cent trisomy 16 mosaicism in the placenta, yet only cytogenetically normal cells in lymphocytes and fibroblasts.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0197-3851
pubmed:author
pubmed:issnType
Print
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1021-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Prenatal diagnosis of an infant with mosaic trisomy 16 of paternal origin.
pubmed:affiliation
Department of Obstetrics and Gynecology, Georgetown University Medical Center, Washington, DC, USA.
pubmed:publicationType
Journal Article, Case Reports