9p subtelomere deletion: pathogenic mutation or normal variant? / 北京大学学报(医学版)
Journal of Peking University(Health Sciences)
;
(6): 92-93, 2006.
Artigo
em Chinês
| WPRIM
| ID: wpr-671470
ABSTRACT
We report an apparently benign familial 9p subtelomere deletion identified using chromosome-arm-specific subtelomere probes in a patient with multiple congenital anomalies. Our experience demonstrated that the discovery of a subtelomeric deletion and/or duplication does not always guarantee the identification of the etiology for the patient's phenotype and a positive finding with subtelomere probes should always be followed by parental study with the same probe in order to distinguish a disease causing alteration from a benign familial polymorphism.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo prognóstico
Idioma:
Chinês
Revista:
Journal of Peking University(Health Sciences)
Ano de publicação:
2006
Tipo de documento:
Artigo
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