Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.
case_report · Level V
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- Record sourced from PubMed, PMID 1865474.
- Also identified by PMC identifier 1016856.
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Abstract
A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.
Medical subject headings
- Abnormalities, Multiple
- Blepharoptosis
- Chromosome Aberrations
- Chromosome Inversion
- Chromosomes, Human, Pair 2
- Coloboma
- Hypertelorism
- Intellectual Disability
- Iris