Related Experiment Videos
Ring 19 mosaicism detected during prenatal diagnosis
G Gillessen-Kaesbach1, N T Ngo
1Institut für Humangenetik, Universitätsklinikum Essen, Germany.
Prenatal Diagnosis
|October 1, 1990
Summary
A rare ring chromosome 19 was detected in a fetus. This genetic finding, ring chromosome 19, is associated with varied developmental outcomes in reported cases.
Area of Science:
- Genetics
- Human Chromosome Abnormalities
- Prenatal Diagnosis
Background:
- Amniocentesis is a prenatal diagnostic tool used to detect chromosomal abnormalities.
- Increased maternal age is a known risk factor for certain genetic conditions.
Observation:
- Amniotic fluid cell cultures revealed a ring chromosome 19 in 67% of metaphases.
- The fetus, identified via prenatal diagnosis, exhibited hypotrophy and mild dysmorphic signs.
Findings:
- The presence of ring chromosome 19 (r(19)) was confirmed through cytogenetic analysis.
- The fetus did not present with major congenital malformations despite the chromosomal abnormality.
Implications:
- Ring chromosome 19 mosaicism presents a spectrum of clinical phenotypes, from normal development to intellectual disability.
- This case highlights the variability in outcomes associated with ring chromosome 19 and the importance of genetic counseling.