Related Experiment Videos
Partial trisomy 19p: case report and natural history
B A Salbert1, M Solomon, J E Spence
1Department of Human Genetics, Medical College of Virginia, Richmond 23298.
Clinical Genetics
|March 1, 1992
Summary
This study details a rare case of partial trisomy 19p in an infant with growth retardation and birth defects. The condition resulted from a parental balanced translocation, highlighting the importance of genetic counseling.
Area of Science:
- Genetics
- Human Genetics
- Chromosomal Abnormalities
Background:
- Partial trisomy 19p is a rare chromosomal abnormality.
- Balanced translocations in parents can lead to unbalanced chromosomal rearrangements in offspring.
Observation:
- An infant presented with intrauterine growth retardation (IUGR), bilateral club feet, renal abnormalities, hearing deficit, and dysmorphic features.
- Karyotyping revealed partial trisomy 19p and partial monosomy 3q due to a paternal derivative chromosome 3.
- The father carried a balanced translocation between chromosomes 3 and 19: t(3;19)(q29;p13.2).
Findings:
- The infant's genetic makeup was 46,XX,-3,+der(3)t(3;19)(q29;p13.2)pat.
- This case shares similarities with a previously reported infant with partial trisomy 19p and partial monosomy 13q, including IUGR and specific dysmorphic features.
Implications:
- This case expands the understanding of partial trisomy 19p phenotypes.
- It underscores the significance of parental balanced translocations in recurrent genetic disorders.
- Further research is needed to delineate the full spectrum of clinical manifestations associated with 19p duplications.