Cargando…
Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report
INTRODUCTION: Ring chromosome 15 is a rare disorder, with only a few over 40 cases reported in the literature. There are only two previous reports of cases where patients with ring chromosome 15 have been followed-up. CASE PRESENTATION: We report here on the 20-year clinical and cytogenetic follow-u...
Autores principales: | Guilherme, Roberta S, Meloni, Vera de FA, Takeno, Sylvia S, Pellegrino, Renata, Brunoni, Decio, Kulikowski, Leslie D, Melaragno, Maria I |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459701/ https://www.ncbi.nlm.nih.gov/pubmed/22958471 http://dx.doi.org/10.1186/1752-1947-6-283 |
Ejemplares similares
-
Mechanisms of ring chromosome formation, ring instability and clinical consequences
por: Guilherme, Roberta S, et al.
Publicado: (2011) -
Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up
por: Meloni, Vera Ayres, et al.
Publicado: (2014) -
Duplication 9p and their implication to phenotype
por: Guilherme, Roberta Santos, et al.
Publicado: (2014) -
Ring chromosome 15 – cytogenetics and mapping arrays: a case report and review of the literature
por: Paz-y-Miño, César, et al.
Publicado: (2018) -
Terminal 18q deletions are stabilized by neotelomeres
por: Guilherme, Roberta Santos, et al.
Publicado: (2015)