Related Experiment Videos
Partial trisomy 5 with a carrier parent t(5p-;9p+)
Clinical Genetics
|April 1, 1976
Insights
Partial trisomy 5p+ is a rare condition observed in an infant with congenital anomalies. Further research is needed to define this syndrome and its relation to Cri du chat syndrome.
Area of Science:
- Genetics
- Pediatrics
- Medical Genetics
Background:
- The clinical significance of partial trisomies of the B group chromosomes remains largely undefined.
- Partial trisomies can arise from various chromosomal rearrangements, including translocations.
Purpose of the Study:
- To investigate a case of partial trisomy 5p+ in an infant with multiple congenital anomalies.
- To explore the potential relationship between partial trisomy 5p+ and the Cri du chat syndrome.
Main Methods:
- Karyotyping of the infant and parental chromosomal analysis.
- Review of clinical presentation and comparison with known chromosomal syndromes.
Main Results:
- The infant presented with multiple congenital anomalies and a partial trisomy 5p+.
- The infant's father was identified as a carrier of a 5/9 translocation.
- The findings suggest a potential link between partial trisomy 5 and Cri du chat syndrome.
Conclusions:
- Partial trisomy 5p+ in this case is associated with congenital anomalies and a parental translocation.
- The partial 5p+ syndrome is not yet clearly defined and requires further investigation.
- The relationship between partial trisomy 5 and Cri du chat syndrome warrants additional study.
Abstract:
The significance of partial trisomies of the B group is as yet unknown. An infant with multiple congenital anomalies was found to have a partial trisomy 5p+ syndrome. The father of this patient demonstrated a 5/9 translocation carrier state. A discussion of the relationship of the partial 5p+ syndrome to the Cri du chat syndrome is noted. Partial trisomy 5 would not appear, as yet, to represent a clearly definable syndrome.