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Partial 3q trisomy due to an unbalanced 3/10 translocation
American Journal of Medical Genetics
|January 1, 1980
Summary
A newborn experienced partial trisomy 3q, presenting with severe dysmorphic features and congenital anomalies. This rare genetic condition led to the infant
Area of Science:
- Genetics
- Developmental Biology
- Pediatric Pathology
Background:
- Partial trisomy 3q is a rare chromosomal abnormality.
- This condition can result from parental translocations.
Observation:
- A female infant presented with features of partial trisomy 3q.
- Dysmorphic features included turricephaly, microcephaly, and limb shortening.
- Congenital anomalies of the reproductive system were noted on autopsy.
Findings:
- The patient exhibited trisomy for 3q distal to band 21.
- Cytogenetic analysis revealed a 3;10 translocation in the father.
- Autopsy confirmed reproductive tract duplications and streak ovaries.
Implications:
- This case highlights the phenotypic spectrum of partial trisomy 3q.
- Understanding the genetic basis is crucial for genetic counseling.
- Further research into 3q duplications can elucidate developmental pathways.