Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects

BACKGROUND: Ring chromosome 18 [r(18)] syndrome represents a relatively rare condition with a complex clinical picture including multiple congenital dysmorphia and varying degrees of mental retardation. The condition is cytogenetically characterized by a complete or mosaic form of ring chromosome 18...

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Detalles Bibliográficos
Autores principales: Zlotina, Anna, Nikulina, Tatiana, Yany, Natalia, Moiseeva, Olga, Pervunina, Tatiana, Grekhov, Eugeny, Kostareva, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4758088/
https://www.ncbi.nlm.nih.gov/pubmed/26893613
http://dx.doi.org/10.1186/s13039-016-0229-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4758088/
https://www.ncbi.nlm.nih.gov/pubmed/26893613
http://dx.doi.org/10.1186/s13039-016-0229-9

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