An apparently acentric marker chromosome originating from 9p with a functional centromere without detectable alpha and beta satellite sequences.
Am J Med Genet
; 71(4): 436-42, 1997 Sep 05.
Article
en En
| MEDLINE
| ID: mdl-9286452
ABSTRACT
Recently, we studied a patient with minor abnormalities and an apparently acentric marker chromosome who carried a deleted chromosome 9 and a marker chromosome in addition to a normal chromosome 9. The marker was stable in mitosis but lacked a primary constriction. The origin of the marker was established by fluorescent in situ hybridization (FISH) using a chromosome 9 painting probe. Hybridization of unique sequence 9p probes localized the breakpoint proximal to 9p13. Additional FISH studies with all-human centromere alpha satellite, chromosome 9 classical satellite, and beta satellite probes showed no visible evidence of these sequences on the marker [Curtis et al. Am J Hum Genet 57A111, 1995]. Studies using centromere proteins (CENP-B, CENP-C, and CENP-E) were performed and demonstrated the presence of centromere proteins. These studies and the patient's clinical findings are reported here.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Cromosomas Humanos Par 9
/
ADN Satélite
/
Centrómero
/
Deleción Cromosómica
/
Proteínas de Unión al ADN
Límite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1997
Tipo del documento:
Article
País de afiliación:
Estados Unidos