Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association

Isochromosome is a structurally unbalanced chromosome consisting of two short arms or two long arms, which are derived by abnormal centromere division or sister-chromatid exchange. Most autosomal isochromosomes are unusual, while those involving sex chromosomes are common. Kabuki syndrome (KS, OMIM...

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Detalles Bibliográficos
Autores principales: Kumar, Jeevan M., Gowrishankar, Kalpana, Vasanthi, T., Kumar, R. Ashok, Jayasudha, T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276999/
https://www.ncbi.nlm.nih.gov/pubmed/22346002
http://dx.doi.org/10.4103/0971-6866.92089

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276999/
https://www.ncbi.nlm.nih.gov/pubmed/22346002
http://dx.doi.org/10.4103/0971-6866.92089

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