Two cases of coloboma associated with unbalanced translocations.
case_report · Level V
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- Record sourced from PubMed, PMID 8435414.
- Also identified by PMC identifier 504446.
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Abstract
Two cases of coloboma are recorded, both secondary to previously unreported unbalanced translocations. These cases underline the association of chromosomal abnormalities and coloboma, particularly when accompanied by systemic abnormalities. They also highlight the importance of a full systemic assessment of coloboma patients and adequate genetic counselling for both patients and their families.
Medical subject headings
- Chromosomes, Human, Pair 14
- Chromosomes, Human, Pair 5
- Coloboma
- Microphthalmos
- Translocation, Genetic