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foufouille foufouille 8 février 2016 20:01

@doctorix

Clinical context.

Microcephaly has been associated with numerous genetic etiologies (appendix 4), including syndromes whose causes are as yet unidentified but which may be elucidated by further research.20 Because the genetics of microcephaly is a rapidly evolving field, currently available data likely underestimate the importance and relevance of genetic testing as part of the diagnostic evaluation of children with microcephaly.20 Many of the microcephaly genes identified to date have been associated with specific phenotypes, allowing more targeted clinical testing. Available screening tests for chromosomal deletions and duplications include karyotyping, subtelomeric fluorescent in situ hybridization, and bacterial artificial chromosome or oligo-based comparative genomic hybridization.2,20,21 As the diagnostic yields of these tests in children with microcephaly is currently unknown, specific recommendations regarding their use cannot be made at this time.

c’est écrit génétique pas pesticides


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