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Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.

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.

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Autor principal: Pallotta, R
Format: Artigo
Idioma:Inglês
Publicat: 1991
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016856/
https://ncbi.nlm.nih.gov/pubmed/1865474
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