Literature DB >> 27617112

Partial Deletion of Chromosome 1p31.1 Including only the Neuronal Growth Regulator 1 Gene in Two Siblings.

Ann Genovese1, Devin M Cox1, Merlin G Butler1.   

Abstract

We present two siblings with a partial deletion of chromosome 1p31.1 involving only the neuronal growth regulator 1 (NEGR1) gene. The siblings had a history of neuropsychiatric and behavioral problems, learning difficulties, hypotonia, mild aortic root dilatation, hypermobility, and scoliosis. This is the first clinical report of a microdeletion of chromosome 1p31.1 involving only the NEGR1 gene.

Entities:  

Keywords:  NEGR1 gene; microarray; neuropsychiatry; obesity; partial chromosome 1p31.1 deletion; siblings; visual performance

Year:  2015        PMID： 27617112      PMCID： PMC4906414          DOI： 10.1055/s-0035-1554977

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  14 in total

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