Microdeletions

Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.

8 Feb , 2016 News from the world

Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.

Am J Med Genet. 2016 Jan 11 Authors Ronzoni L, Tagliaferri F, Tucci A, Baccarin M, Esposito S, Milani D. Abstract Interstitial deletions of the long arm of chromosome 6 are rare. Clinically, these deletions are considered to be part of a unique microdeletion syndrome associated with intellectual disability and speech impairment, typical dysmorphic features, structural anomalies of the brain, […]

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Pediatric Epilepsy Paper

30 Jun , 2014 News from Microgenomics

Pediatric Epilepsy Paper

Microgenomics Staff invites you to read an interesting paper on CNVs and epilepsy, recently published by a group of American colleagues in the European Journal of Human Genetics. In this work, entitled 6q22.1 microdeletion and susceptibility to pediatric epilepsy, Szafranski and colleagues have focused on the study of 6 patients, unrelated to each other, with microdeletion […]

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