Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1992-11-23
|
| pubmed:abstractText |
A 40-year-old white woman underwent amniocentesis for advanced maternal age at 15.4 weeks gestation. Fetal chromosome analysis demonstrated two distinct cell lines: [46,XX,t(1;19)(p11;p11)]--10%; and [47,XX,t(1;19)(p11;p11) + der(1)t(1;19)(p11;q11)]--90%. The latter karyotype was trisomic for both 1q and 19p. The mother carried the balanced translocation; the father had a normal karyotype. Amniotic fluid alpha-fetoprotein level was elevated and an acetylcholinesterase band was detected. Level II ultrasonography at 17 and 24 weeks revealed several abnormalities, including a large facial cleft and a probable facial teratoma and intracranial tumor. Autopsy following pregnancy termination confirmed the presence of both. Chromosome evaluation of 172 metaphases of both the epignathus and the intracranial teratoma demonstrated a predominance of the cell line with 47 chromosomes (166/172 = 96.5%), while from nonteratoma tissue (lung, liver, skin, and brain) only the balanced karyotype was detected. These observations suggest that the chromosomal imbalance is instrumental in the etiology of the teratoma.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
|
| pubmed:issn |
0040-3709
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
46
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
399-404
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:1384156-Abnormalities, Multiple,
pubmed-meshheading:1384156-Abortion, Therapeutic,
pubmed-meshheading:1384156-Adult,
pubmed-meshheading:1384156-Amniocentesis,
pubmed-meshheading:1384156-Chromosome Aberrations,
pubmed-meshheading:1384156-Chromosome Disorders,
pubmed-meshheading:1384156-Chromosomes, Human, Pair 1,
pubmed-meshheading:1384156-Chromosomes, Human, Pair 19,
pubmed-meshheading:1384156-Female,
pubmed-meshheading:1384156-Fetal Diseases,
pubmed-meshheading:1384156-Humans,
pubmed-meshheading:1384156-Mosaicism,
pubmed-meshheading:1384156-Neoplasms, Multiple Primary,
pubmed-meshheading:1384156-Palatal Neoplasms,
pubmed-meshheading:1384156-Skull Neoplasms,
pubmed-meshheading:1384156-Teratoma,
pubmed-meshheading:1384156-Trisomy,
pubmed-meshheading:1384156-alpha-Fetoproteins
|
| pubmed:year |
1992
|
| pubmed:articleTitle |
An unusual mosaic karyotype detected through prenatal diagnosis with duplication of 1q and 19p and associated teratoma development.
|
| pubmed:affiliation |
Department of Obstetrics and Gynecology, University of Maryland, Baltimore 21201.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|