Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear

BACKGROUND: Killian-Pallister syndrome (KPS) is a rare form of chromosomal mosaicism and is defined by the existence of an extra chromosome 12 in some cell lines in one individual. The degree of mosaicism varies among tissues and dictates the clinical presentation of the syndrome. The clinical featu...

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Detalles Bibliográficos
Autores principales: Sukarova-Angelovska, Elena, Kocova, Mirjana, Ilieva, Gordana, Angelkova, Natalija, Kochova, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855855/
https://www.ncbi.nlm.nih.gov/pubmed/27148406
http://dx.doi.org/10.1186/s13039-016-0239-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855855/
https://www.ncbi.nlm.nih.gov/pubmed/27148406
http://dx.doi.org/10.1186/s13039-016-0239-7

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