The application of region-specific probes for the resolution of duplication 8p: a case report and a review of the literature.
Cytogenet Genome Res
; 103(1-2): 3-7, 2003.
Article
en En
| MEDLINE
| ID: mdl-15004455
ABSTRACT
The structural rearrangement in the short arm of a chromosome 8 in a clinically affected patient has been reinvestigated by FISH using whole chromosome painting and region specific YAC probes. An inverted duplication of the segment p22-->p11.2 and a deletion of the subtelomeric region were demonstrated. By this approach, a more detailed resolution of the duplication/deletion 8p was possible. With the application of molecular cytogenetic methods the existence of different duplication segments within the clinical entity of duplication/deficiency 8p can be shown.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 8
/
Sondas de ADN
/
Aberraciones Cromosómicas
/
Hibridación Fluorescente in Situ
/
Trastornos de los Cromosomas
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Cytogenet Genome Res
Asunto de la revista:
GENETICA
Año:
2003
Tipo del documento:
Article
País de afiliación:
Alemania