Moyamoya syndrome and 6p chromosome rearrangements: Expanding evidences of a new association.
Eur J Paediatr Neurol
; 20(5): 766-71, 2016 Sep.
Article
en En
| MEDLINE
| ID: mdl-27236536
ABSTRACT
BACKGROUND:
Moyamoya syndrome represents an etiologically heterogeneous cerebral evolutive angiopathy. It can be associated with both well-characterized and recently described genetic conditions with mendelian inheritance. CASE REPORT We report the case of a moyamoya angiopathy in a prematurely born girl affected by congenital heart defect, mild facial dysmorphism, mild neurodevelopmental delay and borderline cognitive profile, associated to a de novo complex rearrangement involving the terminal segment of the short arm of chromosome 6.CONCLUSION:
To the best of our knowledge, this is the second case described of pediatric moyamoya syndrome associated with a 6p complex rearrangement. Adding this case to the pertinent literature, we discuss the pathogenic role of rearrangements in 6p region in moyamoya syndrome and suggest to investigate in this region potential genes involved in angiogenesis or vascular homeostasis.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 6
/
Enfermedad de Moyamoya
Tipo de estudio:
Risk_factors_studies
Límite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Eur J Paediatr Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2016
Tipo del documento:
Article