Article
Partial trisomy of the pericentromeric region of chromosome 5 in a girl with binder phenotype.
Cytogenetic and genome research - 1 Jan 2014
Hadzsiev Kinga, Dávid Dezső, Szabó Gyula, Czakó Márta, Melegh Béla, Kosztolányi György
Abstract excerpt
The patient reported here displayed most characteristic features of Binder syndrome (OMIM: 155050), a rare maxillonasal malformation with unknown etiology. She was sent for genetic evaluation at the age of 10 years because of facial dysmorphism and borderline intellectual disability. Cytogenetic analyses showed a de novo supernumerary small ring chromosome with a pericentromeric region of chromosome 5 in all...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
