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Partial deletion of distal 17q
American Journal of Medical Genetics
|June 1, 1985
Summary
This study reports the first liveborn infant with a terminal 17q deletion, presenting numerous congenital anomalies. The deletion resulted from maternal translocation, highlighting genetic inheritance patterns.
Area of Science:
- Genetics
- Pediatrics
- Clinical Medicine
Background:
- Terminal deletions of chromosome 17q are rare in liveborn infants.
- Maternal balanced reciprocal translocations can lead to unbalanced chromosomal abnormalities in offspring.
- Congenital anomalies associated with chromosomal deletions require detailed case reporting for understanding genotype-phenotype correlations.