Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus

SUMMARY: We describe a rare case of a girl with an initial diagnostic hypothesis of chromosome 8 trisomy based on clinical findings and karyotyping, which identified a structural change in the short arm of chromosome 8 (46,XX,add(8)(p23)). At the age of 7, she developed type 1 diabetes mellitus and...

Descripción completa

Detalles Bibliográficos
Autores principales: Netto, Vitor Scalone, Bellincanta, Gabriel, Neto, Guido de Paula Colares, de Araujo Evangelista, Nara Michelle, Figueiredo, Carolina Costa, Salmona, Patricia, Tonetto-Fernandes, Vânia de Fátima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
New Disease or Syndrome: Presentations/Diagnosis/Management
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8859954/
https://www.ncbi.nlm.nih.gov/pubmed/35140187
http://dx.doi.org/10.1530/EDM-20-0197

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8859954/
https://www.ncbi.nlm.nih.gov/pubmed/35140187
http://dx.doi.org/10.1530/EDM-20-0197

Ejemplares similares