Article
Partial mosaic trisomy 5: a new case report with ocular involvement.
Journal francais d'ophtalmologie - 1 Oct 2009
Schlegel Z, Valent A, Hirsch A
Abstract excerpt
We describe a new case of a male patient with a small marker chromosome present as 80% mosaic, derived from chromosome 5 with presence of posterior iridolenticular synechia, high hyperopia, epicanthic folds, hypertelorism, moderate developmental delay with lack of speech, macrocephaly, and subtle dysmorphic features including micrognathia, slightly rotated ears, and polydactyly. The karyotype of our patient was...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
