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Cri-du-chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization

The cri-du-chat syndrome is caused by a deletion on the short arm of chromosome number 5. The size of genetic material loss varies from the 5p15.2 region only to the whole arm. Prevalence rates range between 1:15000 and 1:50000 live births. Diagnosis is suspected on infants with a high-pitched (cat-...

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Udgivet i:Revista de la Facultad de Medicina
Principais autores: Wilmar Saldarriaga, Laura Collazos-Saa, Julián Ramírez-Cheyne
Format: Artigo
Sprog:Inglês
Udgivet: Universidad Nacional de Colombia 2017
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