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Prenatal diagnosis of trisomy 20 mosaicism indicating esophageal and rectal origin
- Source :
- Clinical Genetics. 27:263-268
- Publication Year :
- 2008
- Publisher :
- Wiley, 2008.
-
Abstract
- Trisomy 20 mosaicism in cultured amniotic fluid cells has in only a few cases been confirmed in fetal tissue. This may lead to the assumption that the trisomic cells are of extra-fetal origin and interruption of the pregnancy is not advisable. Chromosome analysis of numerous fetal tissues indicated in two cases the presence of one or more trisomy 20 cell clones in rectum and esophagus, respectively. The clinical significance of trisomy 20 mosaicism in single organs remains to be elucidated. Besides the karyotype, genetic counselling should take into account all accessible information of the pregnancy, e.g. ultra-sound, serum alpha-fetoprotein values and obstetrical history.
- Subjects :
- Adult
Pathology
medicine.medical_specialty
Chromosomes, Human, 19-20
Aneuploidy
Trisomy
Prenatal diagnosis
Esophagus
Fetus
Pregnancy
Genetics
medicine
Humans
Metaphase
Genetics (clinical)
medicine.diagnostic_test
Mosaicism
business.industry
Infant, Newborn
Rectum
Karyotype
medicine.disease
medicine.anatomical_structure
Karyotyping
Amniocentesis
Female
alpha-Fetoproteins
Chromosome 20
business
Subjects
Details
- ISSN :
- 13990004 and 00099163
- Volume :
- 27
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi.dedup.....c8ffff3cf41974e0f91d3bba73f12d9d