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Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report

BACKGROUND: Genetic disorders are a major cause in the etiology of cases with intellectual disability; however, analysis by a conventional technique such as cytogenetic karyotyping only allows the detection of chromosomal alterations in approximately 9.5 % of cases. The inclusion of new technologies...

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Bibliografiska uppgifter
I publikationen:J Med Case Rep
Huvudupphovsmän: Ruiz-Botero, Felipe, Pachajoa, Harry
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2016
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4962380/
https://ncbi.nlm.nih.gov/pubmed/27459995
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-016-0988-2
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