Article
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype.
American journal of medical genetics. Part A - 1 Oct 2012
Cirillo Emilia, Romano Rosa, Romano Alfonso, Giardino Giuliana, Durandy Anne, Nitsch Lucio, Genesio Rita, Di Gregorio Eleonora, Cavalieri Simona, Abate Giovanna, Del Vecchio Luigi, Brusco Alfredo, Pignata Claudio
Abstract excerpt
We report on a child with a de novo deletion of approximately 12 Mb detected through array comparative genomic hybridization (CGH). The deletion involved chromosome bands 13q12.3-13q14.11 and determined the loss of ≥50 genes. A second deletion on chromosome 12p11.3p11.22 of 43-167 kb, including about 12 genes, was unlikely of clinical relevance because inherited from the asymptomatic father. The child had...
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