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Translocation C:D involving chromosomes 11 and 14.
Human Genetics
|January 25, 1979
Summary
A chromosomal translocation between chromosome 11 and chromosome 14 was found in an infant with microcephaly and developmental delay. This genetic abnormality involves the exchange of material between specific arms of these chromosomes.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Chromosomal translocations can lead to developmental abnormalities.
- Identifying specific translocation breakpoints is crucial for understanding genetic disorders.
Observation:
- A 7-month-old male infant presented with microcephaly and developmental delay.
- Genetic analysis revealed a translocation involving chromosome 11 and chromosome 14.
Findings:
- The translocation involved the transfer of genetic material from chromosome 11 to chromosome 14.
- Breakpoints were localized to the long arm of chromosome 11 (near the centromere) and the short arm of chromosome 14.
Implications:
- This specific translocation may be the underlying cause of the infant's microcephaly and developmental delay.
- Further research can elucidate the precise genes affected and their role in neurodevelopment.
- Understanding such chromosomal rearrangements aids in genetic counseling and diagnosis.