5p14 deletion associated with microcephaly and seizures.
J Med Genet
; 37(2): 125-7, 2000 Feb.
Article
en En
| MEDLINE
| ID: mdl-10662813
ABSTRACT
We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, seizures, and global developmental delay. The extent of the 5p14 deletion was determined using fluorescence in situ hybridisation (FISH). The deletion in this present family is smaller than a deletion previously described in a multigenerational family that lacks any clinical phenotype. This report shows that a 5p14 deletion does not always lead to a normal phenotype.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Convulsiones
/
Cromosomas Humanos Par 5
/
Eliminación de Gen
/
Microcefalia
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
J Med Genet
Año:
2000
Tipo del documento:
Article
País de afiliación:
Estados Unidos